(used for variant description)
(last modified December 20, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_005076.3 in the CNTN2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033845.1, covering CNTN2 transcript NM_005076.3.
(upstream sequence)
. . g.5029
acacacacgcgccctcacccgccaccgcc c.-241
. . . . . . g.5089
gccgcggccgccgccgcacccggacagcgagcggctgaggccgccagggcccaaaggaca c.-181
. . . . . . g.5149
gcggcccagacaggggctggcggcccggccggccccggctcaccgactcgggcagcatcc c.-121
. . . . | 02 . . g.14914
acctgccccagccaacacccttctctcgccccag | gtcctttctcagcctccagctgggct c.-61
. . . . . . g.14974
gtccccaagctgagctgaggctcttctcctccgatccccacctctgcccggacatccacc c.-1
. . . . . . g.15034
ATGGGGACAGCCACCAGGAGGAAGCCACACCTGCTGCTGGTAGCTGCTGTGGCCCTTGTC c.60
M G T A T R R K P H L L L V A A V A L V p.20
. | 03 . . . . . g.19759
TCCTCTTCAG | CTTGGAGTTCAGCCCTGGGATCCCAAACCACCTTCGGGCCTGTCTTTGAA c.120
S S S A | W S S A L G S Q T T F G P V F E p.40
. . . . . . g.19819
GACCAGCCCCTCAGTGTGCTATTCCCAGAGGAGTCCACGGAGGAGCAGGTGTTGCTGGCA c.180
D Q P L S V L F P E E S T E E Q V L L A p.60
. . . | 04 . . . g.19994
TGCCGCGCCCGGGCCAGCCCTCCAGCCACCTATCG | GTGGAAGATGAATGGTACCGAGATG c.240
C R A R A S P P A T Y R | W K M N G T E M p.80
. . . . . . g.20054
AAGCTGGAGCCAGGTTCCCGTCACCAGCTGGTGGGGGGCAACCTGGTCATCATGAACCCC c.300
K L E P G S R H Q L V G G N L V I M N P p.100
. . . . . . g.20114
ACCAAGGCACAGGATGCCGGGGTCTACCAGTGCCTGGCCTCCAACCCAGTGGGCACCGTT c.360
T K A Q D A G V Y Q C L A S N P V G T V p.120
. . . | 05 . . . g.20385
GTCAGCAGGGAGGCCATCCTCCGCTTCGGCT | TTCTGCAGGAATTCTCCAAGGAGGAGCGA c.420
V S R E A I L R F G F | L Q E F S K E E R p.140
. . . . . . g.20445
GACCCAGTGAAAGCTCATGAAGGCTGGGGGGTGATGTTGCCCTGTAACCCACCTGCCCAC c.480
D P V K A H E G W G V M L P C N P P A H p.160
| 06. . . . . . g.20925
TACCCAG | GCTTGTCCTACCGCTGGCTCCTCAACGAGTTCCCCAACTTCATCCCGACGGAC c.540
Y P G | L S Y R W L L N E F P N F I P T D p.180
. . . . . . g.20985
GGGCGTCACTTCGTGTCCCAGACCACAGGGAACCTGTACATTGCCCGAACCAATGCCTCA c.600
G R H F V S Q T T G N L Y I A R T N A S p.200
. . . . . . g.21045
GACCTGGGCAACTACTCCTGTTTGGCCACCAGCCACATGGACTTCTCCACCAAGAGCGTC c.660
D L G N Y S C L A T S H M D F S T K S V p.220
. . . | 07. . . g.21394
TTCAGCAAGTTTGCTCAGCTCAACCTGGCTGCTGAAG | ATACCCGGCTCTTTGCACCCAGC c.720
F S K F A Q L N L A A E D | T R L F A P S p.240
. . . . . . g.21454
ATCAAGGCCCGGTTCCCAGCAGAGACCTATGCACTGGTGGGGCAGCAGGTCACCCTGGAG c.780
I K A R F P A E T Y A L V G Q Q V T L E p.260
. | 08. . . . . g.23076
TGCTTCGCCTTTGGGAA | CCCTGTCCCCCGGATCAAGTGGCGCAAAGTGGACGGCTCCCTG c.840
C F A F G N | P V P R I K W R K V D G S L p.280
. . . . . . g.23136
TCCCCGCAGTGGACCACAGCTGAGCCCACCCTGCAGATCCCCAGCGTCAGCTTTGAGGAT c.900
S P Q W T T A E P T L Q I P S V S F E D p.300
. . . . . . g.23196
GAGGGCACCTACGAGTGTGAGGCGGAGAACTCCAAGGGCCGAGACACCGTGCAGGGCCGC c.960
E G T Y E C E A E N S K G R D T V Q G R p.320
. | 09 . . . . . g.23700
ATCATCGTGCAGG | CTCAGCCTGAGTGGCTAAAAGTGATCTCGGACACAGAGGCTGACATT c.1020
I I V Q A | Q P E W L K V I S D T E A D I p.340
. . . . . . g.23760
GGCTCCAACCTGCGTTGGGGCTGTGCAGCCGCCGGCAAGCCCCGGCCTACAGTGCGCTGG c.1080
G S N L R W G C A A A G K P R P T V R W p.360
. . . | 10 . . . g.24258
CTGCGGAACGGGGAGCCTCTGGCCTCCCAG | AACCGGGTGGAGGTGTTGGCTGGGGACCTG c.1140
L R N G E P L A S Q | N R V E V L A G D L p.380
. . . . . . g.24318
CGGTTCTCCAAGCTGAGCCTGGAAGACTCGGGCATGTACCAGTGTGTGGCAGAGAATAAG c.1200
R F S K L S L E D S G M Y Q C V A E N K p.400
. . . . | 11 . . g.26130
CACGGTACCATCTACGCCAGCGCCGAGCTAGCCGTGCAAG | CACTCGCCCCTGACTTCAGG c.1260
H G T I Y A S A E L A V Q A | L A P D F R p.420
. . . . . . g.26190
CTGAATCCCGTGAGGCGTCTGATCCCCGCGGCCCGCGGGGGAGAGATCCTTATCCCCTGC c.1320
L N P V R R L I P A A R G G E I L I P C p.440
. . . . . . g.26250
CAGCCCCGGGCAGCTCCAAAGGCCGTGGTGCTCTGGAGCAAAGGCACGGAGATTTTGGTC c.1380
Q P R A A P K A V V L W S K G T E I L V p.460
. | 12 . . . . . g.26460
AACAGCAGCAG | AGTGACTGTAACTCCAGATGGCACCTTGATCATAAGAAACATCAGCCGG c.1440
N S S R | V T V T P D G T L I I R N I S R p.480
. . . . . . g.26520
TCAGATGAAGGCAAATACACCTGCTTTGCTGAGAACTTCATGGGCAAAGCCAACAGCACT c.1500
S D E G K Y T C F A E N F M G K A N S T p.500
. | 13 . . . . g.26916
GGAATCCTATCTGTGCGAG | ATGCAACCAAAATCACTCTAGCCCCCTCAAGTGCCGACATC c.1560
G I L S V R D | A T K I T L A P S S A D I p.520
. . . . . . g.26976
AACTTGGGTGACAACCTGACCCTACAGTGCCATGCCTCCCACGACCCCACCATGGACCTC c.1620
N L G D N L T L Q C H A S H D P T M D L p.540
. . . . . . g.27036
ACCTTCACCTGGACCCTGGACGACTTCCCCATCGACTTTGATAAGCCTGGAGGGCACTAC c.1680
T F T W T L D D F P I D F D K P G G H Y p.560
. | 14 . . . . . g.27622
CGGAGAACTAATGTG | AAGGAGACCATTGGGGATCTGACCATCCTGAACGCCCAGCTGCGC c.1740
R R T N V | K E T I G D L T I L N A Q L R p.580
. . . . . . g.27682
CATGGGGGGAAGTACACGTGCATGGCCCAGACGGTGGTGGACAGCGCGTCCAAGGAGGCC c.1800
H G G K Y T C M A Q T V V D S A S K E A p.600
. | 15 . . . . . g.28273
ACAGTCCTGGTCCGAG | GTCCGCCAGGTCCCCCAGGAGGTGTGGTGGTGAGGGACATTGGC c.1860
T V L V R G | P P G P P G G V V V R D I G p.620
. . . . . . g.28333
GACACCACCATCCAGCTCAGCTGGAGCCGTGGCTTCGACAACCACAGCCCCATCGCTAAG c.1920
D T T I Q L S W S R G F D N H S P I A K p.640
. . . . . | 16 . g.28894
TACACCCTGCAAGCTCGCACTCCACCTGCAGGGAAGTGGAAGCAGGTTCGGACCA | ATCCT c.1980
Y T L Q A R T P P A G K W K Q V R T N | P p.660
. . . . . . g.28954
GCAAACATCGAGGGCAATGCCGAGACTGCACAGGTGCTGGGCCTCACCCCCTGGATGGAC c.2040
A N I E G N A E T A Q V L G L T P W M D p.680
. . . . . . g.29014
TATGAGTTCCGGGTCATAGCCAGCAACATTCTGGGCACTGGGGAGCCTAGTGGGCCCTCC c.2100
Y E F R V I A S N I L G T G E P S G P S p.700
. . | 17 . . . . g.31314
AGCAAAATCCGGACCAGGGAAGCAG | CCCCCTCGGTGGCACCCTCAGGACTCAGCGGAGGA c.2160
S K I R T R E A A | P S V A P S G L S G G p.720
. . . | 18 . . . g.31639
GGTGGAGCCCCCGGAGAGCTCATCGTCAACTGGACG | CCCATGTCACGGGAGTACCAGAAC c.2220
G G A P G E L I V N W T | P M S R E Y Q N p.740
. . . . . . g.31699
GGAGACGGCTTCGGCTACCTGCTGTCCTTCCGCAGGCAGGGCAGCACTCACTGGCAGACC c.2280
G D G F G Y L L S F R R Q G S T H W Q T p.760
. . . . . . g.31759
GCCCGGGTGCCTGGCGCCGATGCCCAGTACTTTGTCTACAGCAACGAGAGCGTCCGGCCC c.2340
A R V P G A D A Q Y F V Y S N E S V R P p.780
. . . . . . g.31819
TACACGCCCTTTGAGGTCAAGATCCGCAGCTACAACCGCCGCGGGGATGGGCCCGAGAGC c.2400
Y T P F E V K I R S Y N R R G D G P E S p.800
. . . | 19 . . . g.32243
CTCACTGCACTCGTGTACTCAGCTGAGGAAG | AGCCCAGGGTGGCCCCTACCAAGGTGTGG c.2460
L T A L V Y S A E E E | P R V A P T K V W p.820
. . . . . . g.32303
GCCAAAGGGGTCTCATCCTCAGAGATGAACGTGACCTGGGAACCCGTGCAGCAGGACATG c.2520
A K G V S S S E M N V T W E P V Q Q D M p.840
. . | 20 . . . . g.33771
AATGGTATCCTCCTGGGGTATGAG | ATCCGCTACTGGAAAGCTGGGGACAAAGAAGCAGCT c.2580
N G I L L G Y E | I R Y W K A G D K E A A p.860
. . . . . . g.33831
GCGGACCGAGTGAGGACAGCAGGGCTGGACACCAGTGCCCGAGTCAGCGGCCTGCATCCC c.2640
A D R V R T A G L D T S A R V S G L H P p.880
. . . . . . g.33891
AACACCAAGTACCATGTGACCGTGAGGGCCTACAACCGGGCTGGCACTGGGCCTGCCAGC c.2700
N T K Y H V T V R A Y N R A G T G P A S p.900
. . . | 21 . . . g.34300
CCTTCTGCCAACGCCACGACCATGAAGCCCC | CTCCGCGGCGACCTCCTGGCAACATCTCC c.2760
P S A N A T T M K P P | P R R P P G N I S p.920
. . . . . . g.34360
TGGACTTTCTCAAGCTCTAGTCTTAGCATTAAGTGGGACCCTGTGGTCCCTTTCCGAAAT c.2820
W T F S S S S L S I K W D P V V P F R N p.940
. . | 22 . . . . g.34892
GAGTCTGCAGTCACCGGCTATAAG | ATGCTGTACCAGAATGACTTACACCTGACTCCCACG c.2880
E S A V T G Y K | M L Y Q N D L H L T P T p.960
. . . . . . g.34952
CTCCACCTCACCGGCAAGAACTGGATAGAAATCCCAGTGCCTGAAGACATTGGCCATGCC c.2940
L H L T G K N W I E I P V P E D I G H A p.980
. . . . . . g.35012
CTGGTACAAATTCGGACCACAGGGCCCGGAGGGGATGGGATCCCTGCAGAAGTCCACATC c.3000
L V Q I R T T G P G G D G I P A E V H I p.1000
. | 23 . . . . . g.35491
GTGAGGAATGGAG | GCACAAGCATGATGGTGGAGAACATGGCAGTCCGCCCAGCACCACAC c.3060
V R N G G | T S M M V E N M A V R P A P H p.1020
. . . . . . g.35551
CCTGGCACCGTCATTTCCCACTCCGTGGCGATGCTGATCCTCATAGGCTCCCTGGAGCTC c.3120
P G T V I S H S V A M L I L I G S L E L p.1040
g.35554
TGA c.3123
X p.1040
. . . . . . g.35614
tcctggaacccctccctctgcgccgcagctggacgccacctccgacggacacagccagcc c.*60
. . . . . . g.35674
ccttcctgctgccaaggtggcctgacactgtgccagagagtggctggttttaaataccta c.*120
. . . . . . g.35734
ctttaaacagtgccctttttgtaggaggtaggatattttatattctgccgcaggatagaa c.*180
. . . . . . g.35794
cccacgcaaggattttctttaaattgagaggcaccaggcagtaacttccatgatgacact c.*240
. . . . . . g.35854
gacgcctatacctgagctctaggctgcctggagggaaggaacaggcccatgggaagaagg c.*300
. . . . . . g.35914
gggttttaaaaacatgtcttcaactcagcagagatggccctctgggaccctatacggact c.*360
. . . . . . g.35974
ccgccacttgagagcagtcctaggcccggcaggaacaccagacatgaacaggttgaagaa c.*420
. . . . . . g.36034
ctggagcgaagtgcacacctcaccatccttcagtctaaggaagaagggcaagccctggga c.*480
. . . . . . g.36094
ccaagagctctcccgccttctccctcgagcagcagcaaggaccctgacgctgtccccgat c.*540
. . . . . . g.36154
aactccctaggggctcctgcctgcccaagcggctgagaaccagcgccccgatgcctgagg c.*600
. . . . . . g.36214
ctgggagcctgagccccttcagctttgaggggggtgatactccaggctgtttggggtggg c.*660
. . . . . . g.36274
agccaaaaagagttgagaggccagggcccttggtggaaaggggcaccagccttggtctga c.*720
. . . . . . g.36334
gatagtcacaacccaggtgacgatgccctctcagccaacactgccaacctgaccctgtca c.*780
. . . . . . g.36394
tcccgattgacagcgccacttcaggtggctgggtgactaaagggcttgtcttggtggggt c.*840
. . . . . . g.36454
ctcccacccctccaagacccattctgcacagtccctccagggtttgggcaggagatggcc c.*900
. . . . . . g.36514
aatcatgcgcccacctctccagtgctgcctgcagtcagctcggcctccccgacctgcagc c.*960
. . . . . . g.36574
cccagactctgctctcccagcactgactcactcctgcctgggaggggaatgcagcattca c.*1020
. . . . . . g.36634
tgctgtgtgtcctggtattgggaggtttctgggaagggcagaggataaatgtggccctgc c.*1080
. . . . . . g.36694
ctgctcccaggtatacctaggaccacctggccagatccgctcccagacggccttggactg c.*1140
. . . . . . g.36754
cttgcatttccccggagaaaaaggggttaataaatgggccatcctttcctgagctctggg c.*1200
. . . . . . g.36814
tatactaccagtcacagaacgtcagagctggaagaagccttagagctcaacttcttcaag c.*1260
. . . . . . g.36874
cccctcactttacagatgaggaaatggaggtggtccagagagggtctgggattcccaagg c.*1320
. . . . . . g.36934
tcacacagcccagaagagatggggctgggttaagaactcgagtcttccacctttctgttc c.*1380
. . . . . . g.36994
aaggctgtttgtctacccagaggaaggaggcactgctgaatggctatggcctggctaaga c.*1440
. . . . . . g.37054
aggtgattagtcagtagggtgtgaaaattctacttcaaggggttcggattggtgatcatg c.*1500
. . . . . . g.37114
gggattggcatggctgggttcccgtccaaggtgtgggcagagcttctaccaaacttcaac c.*1560
. . . . . . g.37174
atggagggctgacttgaagctccctgtccccctcactcttgccccaagaaaagaggccaa c.*1620
. . . . . . g.37234
agcaagagcagattccctaggcaagagcagcagcacaactaggaaaccccaaagcccatg c.*1680
. . . . . . g.37294
ctccgacaggtggcccttcacagggggcagcgggacaggcatcttgaagggcatatgtcc c.*1740
. . . . . . g.37354
tcggaagctccgagcctgttttctgtagtttatagttagagctctattttgttatggttt c.*1800
. . . . . . g.37414
tttaaacttttaagtcctgctctattttcctgggcaggtttatgttgatgtttacccact c.*1860
. . . . . . g.37474
acaattttttaaaaatataagctcacatgccttttccctgccacagccaaacccccactg c.*1920
. . . . . . g.37534
caccctacccacccacccctagcccaggtcagctttcctggagctggctaatgaaagcct c.*1980
. . . . . . g.37594
cctcacctcttcccaacccttacaagcaagggtgctaggggctcagctatacgaccattc c.*2040
. . . . . . g.37654
tccctgacagggagtccaaacttggcctagcatccctcctggcccccctctggccacgac c.*2100
. . . . . . g.37714
ttggcctgtgcctggttctctatcagaaaggggatgctgaacaaaacctccttccaagtt c.*2160
. . . . . . g.37774
ttatccaattcgttcctcattgcctcgggctgcgtcaggggaagcaggggacaggtgtcc c.*2220
. . . . . . g.37834
agttgctgggccgagggaggagctggtttggcataggacctaaccagtgaagctagaggc c.*2280
. . . . . . g.37894
tacagccactaaacttgcttcaggccaacgatagttactcacaagtaagtaccttaatgc c.*2340
. . . . . . g.37954
taatgaggtccactaaaaaggggaggaaggcagacctcctgggagacccacgaagggttt c.*2400
. . . . . . g.38014
ttagccagggaaaactgagccccaggaaaacctaaccactgggcaggcagaatttgtttg c.*2460
. . . . . . g.38074
agggatagaacgacaacaaaataaatgttcctgcagcctgagatttcaggtagagtactg c.*2520
. . . . . . g.38134
actaaggtttaataagacaataggtgacctgaggacatgcaagcttgtaaaatgcaacag c.*2580
. . . . . . g.38194
cctcctgctagagtgacttgtacatgagcttgcttgcagaagactagattagatgtttct c.*2640
. . . . . . g.38254
caggatcccctcctgcgcaggggttctctgattttcgtgttctctgcccagatgggctgg c.*2700
. . . . . . g.38314
gggagttgagagtgtgcttattttcactgcgatcatgagaccacagttctgggttatctc c.*2760
. . . . . . g.38374
ctctcatacatcaagccccagaggaggcggcaagaggaacagccacaaacaagtacttta c.*2820
. . . . . . g.38434
ccccacagcttagtggccagtaaacaccctggggactaggaaaaggaaccaactgtaggc c.*2880
. . . . . . g.38494
acctctccagggcctagggagacaagtgtcctctcttctgcatacatttgggctcccctt c.*2940
. . . . . . g.38554
acagagccctttgccctggctctctggtccttgttgctctaacagtccagatgtacaccc c.*3000
. . . . . . g.38614
agcctcagggggaaggcagctctctccagacagagtctcagggcccagcaaggtcaggtt c.*3060
. . . . . . g.38674
atctgctttcattcagggcaacaaatgatacaaatggtgccagggagtggcaaggccatg c.*3120
. . . . . . g.38734
ggggtaggtgggggtgtctttttcttttcataaagtaacaacagacgagactgaggttaa c.*3180
. . . . . . g.38794
acatcagaaaaaaacctctggaatgaccttcctcattccaggaggccctggaataaggaa c.*3240
. . . . . . g.38854
gaggcttctttctgagggagctttgaggaattttgacagctgttgacatgggatttggga c.*3300
. . . . . . g.38914
aaggtgaagctgtgactggaggggcaggagatggtccaagtgtccatccagagatgagac c.*3360
. . . . . . g.38974
tcttagaatcaaagtgttcagcccaggaagtcttggagatcccaccttctgtggccctgc c.*3420
. . . . . . g.39034
accttatgggaagccattaagggggctcatctaggaattctggttacagcccagtgctca c.*3480
. . . . . . g.39094
tcccagcgtatgctgcctctttagggcagccccaagggccagccagcctgtactctgggc c.*3540
. . . . . . g.39154
aagagcccaaaatggctaggaatgtttgactcccttaatctcttccccagctacagagga c.*3600
. . . . . . g.39214
atcttttctctgcctggtctcagaatgggactgccaactggctcattggtgggagacaca c.*3660
. . . . . . g.39274
gtatcctcaaacctgtggccactggcatgacagtggtgctctgtctccctgggtgacacc c.*3720
. . . . . . g.39334
caccctaggcttcctcctggatgtgatggggattgccagagaggctcttagcataaaagg c.*3780
. . . . . . g.39394
cattaggtgggcatttttctgtgtgcccccaaaaagctccatggaaacaggcacctggta c.*3840
. . . . . . g.39454
gctgcggaacacccgtggacttgtgtatatggtcataggctttgggaagacaggacgtaa c.*3900
. . . . . . g.39514
aggaaaatgagagaaacaaaatgggtcagatagctttggccacagccccaggcagccttt c.*3960
. . . . . . g.39574
ggggcctatgacacttagtgcccttagatgggatacatcttgcctcggccccaagactcc c.*4020
. . . . . . g.39634
tccaacttacccgtcccatccagggcctgcacagcttagagaggctcacagcttggcaaa c.*4080
. . . . . . g.39694
tgctagggcttcatcagaccactgacttgactcagtgtttgttaaaatggaaccactccc c.*4140
. . . . . . g.39754
gttggcctactgtttctctcctgtacttcttgtaatgatagttatttattgactctggta c.*4200
. . . . . . g.39814
gcaggcagttcttaaataaagatggtttctcaacctgttggggaagctggcacgagctgt c.*4260
. g.39832
gggtgttatcatcaggct c.*4278
(downstream sequence)
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