(used for variant description)
(last modified June 8, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001111125.1 in the IQSEC2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering IQSEC2 transcript NM_001111125.1.
(upstream sequence)
. . g.5021
cggcagcctcagctcctgctc c.-181
. . . . . . g.5081
cccgtgccgccggccccagcgctgtctcccgggccccctagggcccccgggccctcaagc c.-121
. . . . . . g.5141
ccggtgcgcgccctcgcgtcccgccggccccctcccccggctgggcccgggggagggtgg c.-61
. . . . . . g.5201
cgccgtgagagagcggggacagggctctcctgcccgttcccctgcccctgggccgccagg c.-1
. . . . . . g.5261
ATGGAGGCGGGGTCGGGGCCCCCGGGCGGCCCGGGATCCGAGAGCCCAAATCGGGCCGTG c.60
M E A G S G P P G G P G S E S P N R A V p.20
. . . . . . g.5321
GAGTACCTGCTGGAGCTGAACAACATCATCGAGAGCCAGCAGCAGCTGCTGGAAACCCAG c.120
E Y L L E L N N I I E S Q Q Q L L E T Q p.40
. . . . . . g.5381
CGGCGGCGCATCGAGGAGCTGGAGGGCCAGCTGGACCAGCTCACCCAGGAGAACCGCGAC c.180
R R R I E E L E G Q L D Q L T Q E N R D p.60
. . . . . . g.5441
CTGCGAGAGGAGAGCCAGCTGCACCGCGGGGAGCTGCACCGGGACCCCCACGGCGCGCGG c.240
L R E E S Q L H R G E L H R D P H G A R p.80
. . . . . . g.5501
GATAGCCCGGGCCGCGAGAGCCAGTACCAGAACCTGCGCGAGACCCAGTTCCACCACCGC c.300
D S P G R E S Q Y Q N L R E T Q F H H R p.100
. . . . . . g.5561
GAGCTGCGGGAGAGCCAGTTCCACCAGGCGGCCCGGGACGTGGGCTACCCGAACCGGGAA c.360
E L R E S Q F H Q A A R D V G Y P N R E p.120
. . . . . . g.5621
GGCGCCTACCAGAATCGGGAGGCTGTGTATCGGGACAAGGAGCGGGACGCCTCCTACCCG c.420
G A Y Q N R E A V Y R D K E R D A S Y P p.140
. . . . . . g.5681
CTCCAGGACACTACCGGTTACACAGCCCGCGAGCGTGACGTGGCCCAGTGCCACCTGCAC c.480
L Q D T T G Y T A R E R D V A Q C H L H p.160
. . . . . . g.5741
CACGAGAACCCAGCCCTGGGTCGCGAGCGTGGCGGGCGGGAGGCCGGGCCGGCGCACCCG c.540
H E N P A L G R E R G G R E A G P A H P p.180
. . . . . . g.5801
GGCCGCGAGAAGGAAGCGGGCTATTCGGCGGCGGTGGGCGTGGGGCCGCGGCCACCGCGG c.600
G R E K E A G Y S A A V G V G P R P P R p.200
. . . . . . g.5861
GAGCGGGGCCAGCTGAGCCGTGGCGCATCCAGGAGCTCCAGTCCCGGCGCCGGCGGAGGC c.660
E R G Q L S R G A S R S S S P G A G G G p.220
. . . . | 02. . g.34429
CACAGCACCAGTACCAGCACCAGCCCGGCCACGACCCTCCAGAGAAA | ATCTGATGGTGAG c.720
H S T S T S T S P A T T L Q R K | S D G E p.240
. | 03. . . . . g.70322
AATTCCAGAACAGTCAG | TGTGGAGGGTGATGCCCCAGGCAGTGACCTGAGCACAGCGGTT c.780
N S R T V S | V E G D A P G S D L S T A V p.260
. . . . . . g.70382
GATAGTCCTGGGAGCCAACCCCCCTACCGGCTGAGCCAGCTGCCCCCCTCCAGCAGCCAC c.840
D S P G S Q P P Y R L S Q L P P S S S H p.280
. . . . . . g.70442
ATGGGGGGCCCCCCTGCTGGAGTGGGCCTTCCCTGGGCTCAGCGGGCACGCCTCCAGCCA c.900
M G G P P A G V G L P W A Q R A R L Q P p.300
. . . . . . g.70502
GCCAGTGTCGCCCTGAGGAAGCAGGAGGAGGAGGAGATAAAGCGCTCCAAGGCCCTATCG c.960
A S V A L R K Q E E E E I K R S K A L S p.320
. . . | 04 . . g.71430
GACAGCTATGAACTCTCCACAGACCTGCAGGACAAGAAG | GTGGAAATGCTGGAGAGGAAG c.1020
D S Y E L S T D L Q D K K | V E M L E R K p.340
. . . . . . g.71490
TATGGGGGCTCCTTCCTGAGCCGCAGGGCTGCCAGGACCATCCAGACAGCCTTCCGCCAG c.1080
Y G G S F L S R R A A R T I Q T A F R Q p.360
. . . . . . g.71550
TACCGCATGAACAAGAACTTTGAGCGGCTACGCAGCTCAGCCTCAGAGAGCCGCATGTCC c.1140
Y R M N K N F E R L R S S A S E S R M S p.380
. . . . . . g.71610
CGCCGCATCATCCTTTCCAACATGCGGATGCAGTTCTCCTTTGAGGAGTATGAGAAGGCA c.1200
R R I I L S N M R M Q F S F E E Y E K A p.400
. . . . . . g.71670
CAGAACCCCGCGTACTTCGAGGGCAAGCCTGCCTCGCTGGACGAGGGTGCCATGGCTGGT c.1260
Q N P A Y F E G K P A S L D E G A M A G p.420
. . . . . . g.71730
GCCCGGAGCCACCGGCTTGAACGGGGGCTCCCATATGGAGGCTCCTGTGGTGGGGGCATC c.1320
A R S H R L E R G L P Y G G S C G G G I p.440
. . . . . . g.71790
GATGGTGGTGGAAGCTCCGTCACCACATCTGGAGAGTTTTCTAATGACATCACAGAACTT c.1380
D G G G S S V T T S G E F S N D I T E L p.460
. . | 05 . . . . g.75205
GAGGACTCCTTCTCCAAACAG | GTAAAGTCTCTGGCTGAATCCATCGACGAAGCCCTGAAC c.1440
E D S F S K Q | V K S L A E S I D E A L N p.480
. . . . . . g.75265
TGCCACCCGTCAGGGCCCATGTCTGAGGAGCCAGGGTCAGCCCAGCTGGAGAAGCGGGAG c.1500
C H P S G P M S E E P G S A Q L E K R E p.500
. . . . . . g.75325
TCAAAGGAACAGCAAGAGGACAGCTCAGCCACATCCTTCAGTGATCTTCCCCTCTACCTG c.1560
S K E Q Q E D S S A T S F S D L P L Y L p.520
. . . . . . g.75385
GATGACACAGTTCCCCAACAATCCCCTGAGCGACTGCCCAGCACAGAACCCCCACCCCAG c.1620
D D T V P Q Q S P E R L P S T E P P P Q p.540
. . . . . . g.75445
GGCCGGCCCGAGTTCTGGGCGCCAGCCCCTCTCCCGCCAGTTCCTCCACCAGTGCCATCA c.1680
G R P E F W A P A P L P P V P P P V P S p.560
. . . . . . g.75505
GGAACCCGGGAAGACGGTAGCCGTGAGGAAGGCACTCGCAGGGGTCCCGGGTGCTTGGAG c.1740
G T R E D G S R E E G T R R G P G C L E p.580
. . . . . . g.75565
TGCCGGGATTTCCGGCTGCGGGCTGCCCACCTTCCCCTGCTTACCATTGAGCCTCCTAGT c.1800
C R D F R L R A A H L P L L T I E P P S p.600
. . . . . . g.75625
GACAGCTCCGTGGACCTGAGTGACCGCTCAGATCGCGGCTCTGTCCACCGCCAGCTGGTG c.1860
D S S V D L S D R S D R G S V H R Q L V p.620
. . . . . . g.75685
TATGAGGCTGATGGCTGCAGCCCCCATGGGACCCTGAAGCACAAGGGGCCACCAGGCAGG c.1920
Y E A D G C S P H G T L K H K G P P G R p.640
. . . . . . g.75745
GCCCCGATCCCACACCGCCACTACCCAGCCCCTGAAGGCCCAGCCCCAGCCCCACCAGGG c.1980
A P I P H R H Y P A P E G P A P A P P G p.660
. . . . . . g.75805
CCCCTGCCACCAGCCCCCAACAGTGGCACTGGGCCCAGTGGTGTGGCTGGGGGTCGGAGG c.2040
P L P P A P N S G T G P S G V A G G R R p.680
. . . . . . g.75865
TTGGGGAAGTGCGAGGCAGCAGGCGAGAACTCTGATGGTGGAGATAACGAGAGCCTTGAG c.2100
L G K C E A A G E N S D G G D N E S L E p.700
. . . . . . g.75925
AGCTCCAGCAATTCCAATGAGACCATCAACTGCAGCTCCGGCTCCTCTTCTCGGGACAGT c.2160
S S S N S N E T I N C S S G S S S R D S p.720
. . . . . . g.75985
CTAAGGGAGCCTCCGGCTACCGGCCTGTGCAAGCAGACTTACCAGCGGGAGACAAGGCAT c.2220
L R E P P A T G L C K Q T Y Q R E T R H p.740
. . . . . . g.76045
AGCTGGGACTCGCCAGCTTTCAACAATGATGTGGTCCAGAGGCGGCACTACCGAATCGGC c.2280
S W D S P A F N N D V V Q R R H Y R I G p.760
. | 06. . . . . g.77501
CTCAACCTCTTCAACAA | GAAGCCAGAGAAGGGTATCCAGTATCTGATCGAGCGGGGCTTC c.2340
L N L F N K | K P E K G I Q Y L I E R G F p.780
. . . . . . g.77561
CTGTCAGACACACCGGTGGGAGTGGCTCACTTCATCCTGGAGCGGAAAGGCCTCAGCCGG c.2400
L S D T P V G V A H F I L E R K G L S R p.800
. . . . . | 07 g.78105
CAGATGATAGGGGAATTCCTAGGGAACCGGCAGAAGCAGTTCAACAGAGACGTGTTGGA | C c.2460
Q M I G E F L G N R Q K Q F N R D V L D | p.820
. . . . . . g.78165
TGTGTGGTGGATGAGATGGACTTCTCCTCCATGGATCTGGATGATGCGCTCCGGAAGTTC c.2520
C V V D E M D F S S M D L D D A L R K F p.840
. . . . . . g.78225
CAGTCCCATATCCGGGTTCAGGGTGAGGCCCAGAAAGTGGAGCGACTCATCGAAGCCTTC c.2580
Q S H I R V Q G E A Q K V E R L I E A F p.860
| 08 . . . . . . g.79263
AG | CCAGCGGTACTGTGTCTGTAACCCAGCCCTCGTGCGCCAGTTCCGGAACCCAGACACC c.2640
S | Q R Y C V C N P A L V R Q F R N P D T p.880
. . . . . . g.79323
ATCTTCATCCTTGCTTTTGCCATCATCCTCCTCAATACCGACATGTACAGTCCCAGCGTC c.2700
I F I L A F A I I L L N T D M Y S P S V p.900
. . . . | 09 . g.82880
AAAGCTGAACGAAAGATGAAACTAGATGACTTCATCAAGAACCTGAGAG | GGGTTGACAAT c.2760
K A E R K M K L D D F I K N L R G | V D N p.920
. . . . . . g.82940
GGTGAAGACATCCCCCGAGACCTCCTGGTGGGCATCTACCAGCGCATCCAGGGGCGTGAA c.2820
G E D I P R D L L V G I Y Q R I Q G R E p.940
. . . . . . g.83000
CTGCGGACCAACGATGACCATGTGTCCCAGGTGCAGGCTGTGGAGCGCATGATTGTTGGA c.2880
L R T N D D H V S Q V Q A V E R M I V G p.960
| 10 . . . . . g.84482
AAGAAACCA | GTCCTGTCTCTCCCTCACCGTCGACTGGTTTGCTGCTGCCAGCTCTACGAG c.2940
K K P | V L S L P H R R L V C C C Q L Y E p.980
. . . . . . g.84542
GTGCCAGATCCAAACCGCCCCCAGAGGCTAGGGTTGCATCAGCGGGAGGTCTTCCTCTTC c.3000
V P D P N R P Q R L G L H Q R E V F L F p.1000
. | 11 . . . . . g.87091
AATGATCTCCTTGTG | GTCACCAAAATTTTCCAGAAGAAGAAGATCTTGGTGACGTACAGT c.3060
N D L L V | V T K I F Q K K K I L V T Y S p.1020
. . . . . | 12 . g.88039
TTCCGTCAGTCTTTCCCCCTCGTGGAAATGCACATGCAGCTCTTCCAGAATTCAT | ATTAC c.3120
F R Q S F P L V E M H M Q L F Q N S Y | Y p.1040
. . . . . . g.88099
CAGTTTGGGATCAAGTTGCTGTCTGCAGTACCTGGTGGGGAGCGAAAAGTCCTCATCATC c.3180
Q F G I K L L S A V P G G E R K V L I I p.1060
. . . . . . g.88159
TTCAATGCCCCCAGCCTCCAGGACCGGCTGCGCTTTACATCCGACCTGCGCGAGTCCATT c.3240
F N A P S L Q D R L R F T S D L R E S I p.1080
. . . | 13. . . g.89868
GCGGAGGTGCAGGAGATGGAGAAATACCGTGTGGAGT | CGGAGCTGGAGAAGCAGAAAGGT c.3300
A E V Q E M E K Y R V E S | E L E K Q K G p.1100
. . . . . . g.89928
ATGATGCGGCCTAACGCCTCACAGCCTGGAGGGGCCAAGGACTCAGTGAATGGGACGATG c.3360
M M R P N A S Q P G G A K D S V N G T M p.1120
. . . . . . g.89988
GCCCGCAGTAGCCTGGAGGACACTTACGGGGCAGGCGATGGGCTCAAACGGGGCGCACTC c.3420
A R S S L E D T Y G A G D G L K R G A L p.1140
. . . | 14 . . . g.90537
AGCAGTTCCCTGCGAGACCTCTCTGATGCAG | GGAAGCGGGGGCGGCGTAACAGCGTGGGA c.3480
S S S L R D L S D A G | K R G R R N S V G p.1160
. . | 15 . . . . g.91195
TCGCTGGACAGCACCATCGAA | GGGTCTGTTATTAGCAGTCCACGCCCTCACCAGAGGATG c.3540
S L D S T I E | G S V I S S P R P H Q R M p.1180
. . . . . . g.91255
CCACCTCCGCCCCCACCCCCGCCGCCAGAGGAGTACAAGAGCCAGAGGCCCGTCTCCAAC c.3600
P P P P P P P P P E E Y K S Q R P V S N p.1200
. . . . . . g.91315
TCCTCATCCTTCCTGGGCTCCCTATTTGGAAGCAAGCGGGGCAAGGGGCCCTTCCAGATG c.3660
S S S F L G S L F G S K R G K G P F Q M p.1220
. . . . . . g.91375
CCACCACCGCCAACAGGCCAGGCCTCTGCCTCCTCTTCATCTGCTTCTTCCACGCACCAC c.3720
P P P P T G Q A S A S S S S A S S T H H p.1240
. . . . . . g.91435
CACCACCACCACCACCATCATGGCCATAGCCACGGTGGCCTGGGGGTGCTGCCTGATGGG c.3780
H H H H H H H G H S H G G L G V L P D G p.1260
. . . . . . g.91495
CAGTCCAAGCTCCAGGCCCTGCATGCCCAGTATTGCCAAGGACCGGGCCCTGCCCCGCCA c.3840
Q S K L Q A L H A Q Y C Q G P G P A P P p.1280
. . . . . . g.91555
CCCTACCTCCCACCCCAGCAGCCCTCTCTTCCCCCACCTCCCCAGCAGCCCCCACCCTTG c.3900
P Y L P P Q Q P S L P P P P Q Q P P P L p.1300
. . . . . . g.91615
CCCCAGCTGGGCTCCATTCCACCGCCTCCCGCCTCAGCCCCACCTGTGGGGCCACATCGC c.3960
P Q L G S I P P P P A S A P P V G P H R p.1320
. . . . . . g.91675
CACTTCCACGCCCATGGCCCAGTCCCAGGGCCCCAACACTATACCTTGGGCCGGCCAGGC c.4020
H F H A H G P V P G P Q H Y T L G R P G p.1340
. . . . . . g.91735
AGGGCACCCAGACGGGGGGCTGGAGGACACCCTCAGTTTGCTCCACATGGCCGCCACCCC c.4080
R A P R R G A G G H P Q F A P H G R H P p.1360
. . . . . . g.91795
CTGCACCAGCCCACATCCCCACTGCCCCTGTACAGTCCTGCCCCCCAGCACCCTCCAGCC c.4140
L H Q P T S P L P L Y S P A P Q H P P A p.1380
. . . . . . g.91855
CACAAACAGGGCCCTAAGCACTTCATCTTCAGCCACCACCCACAGATGATGCCAGCAGCA c.4200
H K Q G P K H F I F S H H P Q M M P A A p.1400
. . . . . . g.91915
GGCGCGGCTGGGGGCCCTGGATCCCGGCCACCAGGGGGCTCCTACTCCCACCCCCACCAC c.4260
G A A G G P G S R P P G G S Y S H P H H p.1420
. . . . . . g.91975
CCCCAGTCACCATTGTCACCACACTCACCCATCCCACCCCACCCCTCCTATCCACCCCTC c.4320
P Q S P L S P H S P I P P H P S Y P P L p.1440
. . . . . . g.92035
CCCCCACCCTCCCCTCACACCCCGCACTCACCCCTTCCACCCACCTCCCCCCATGGCCCG c.4380
P P P S P H T P H S P L P P T S P H G P p.1460
. . . . . . g.92095
CTGCACGCCTCTGGGCCCCCTGGCACAGCCAACCCCCCCAGTGCAAACCCCAAGGCCAAG c.4440
L H A S G P P G T A N P P S A N P K A K p.1480
. . g.92122
CCAAGCCGGATCAGCACCGTGGTCTGA c.4467
P S R I S T V V X p.1488
. . . . . . g.92182
tgaatggagagagtgagctggggaacaggaaagtctggggagccacaggagagggacctt c.*60
. . . . . . g.92242
gcaccctctttgcttcctcggttttttcaaaaatatatatacacatagcaatgtcctcct c.*120
. . . . . . g.92302
ccccatgtcctccctgccttgggacccgtcctctcacccccagcagttgccatggggttt c.*180
. . . . . . g.92362
ccttccagattcgaggatccttgccacttgaagcctggactcagggtgctccagcgctgg c.*240
. . . . . . g.92422
ggagtggtgagggccttccagagatcctcgtactctttctcccgtcttcttcttccccac c.*300
. . . . . . g.92482
ttttccctggaggtctagctctgtggcctcagacctctgggcctgtgtgagctctctgtg c.*360
. . . . . . g.92542
agctctggctggcggagaagggcaggtgtccggagctgtcggggtgaaggcttccctggg c.*420
. . . . . . g.92602
gctcctctggccgtgtggggctaggagagcgctctgtagagttgtggccaaacttcagct c.*480
. . . . . . g.92662
ggcttggccctctctctgacctcagggcctggccacacacttccatgtgtctttttgcct c.*540
. . . . . . g.92722
gctggaggacacggaccattgatgcacttggtgggtgggaccctgcttgtgttggcccca c.*600
. . . . . . g.92782
cgtggggcagtgcttcctctctcgagccagtctatgccctttctccagtaggccccagcc c.*660
. . . . . . g.92842
cagacctcttcggcttcaggaacttgcctcgccctgcaacgttcttatcctgatcaaagt c.*720
. . . . . . g.92902
ccagacaggttttggggggggctcaggtctgggatgagaagggcactgccctccctcacc c.*780
. . . . . . g.92962
catattgcatgcccccccgccattcccttacacctaccccacctacaactgaagacaatg c.*840
. . . . . . g.93022
cactttacagatatcacccacacacacctcgctggggcaggggcacccagcatcagccct c.*900
. . . . . . g.93082
ggggagagaggctcccaaagggccaccatgagcccaagatatccttcctgaggcagagat c.*960
. . . . . . g.93142
tgaagccatcagagctggggttgggagccagaatgcctgagtccttctgtccgtcagaat c.*1020
. . . . . . g.93202
ctccgctgcctctccagcccttttgcagccctgtttatttattataaatatattttttac c.*1080
. . . . . . g.93262
aagccccagctcctcttcttgccccgcatatccagctcctcactcagctcctgcctccct c.*1140
. . . . . . g.93322
ctcccctctccaccatgggctgcagtatagacagacagatggaccctggctgtacgaagg c.*1200
. . . . . . g.93382
gccagggccactggggcttgggggcgggggagggtggcagtgggaggggctgtatggaga c.*1260
. . . . . . g.93442
ggagctggggttcaggcattgtcttttttcctccttgtatataagaatgtatatttgatg c.*1320
. g.93458
cctcataaaagacctt c.*1336
(downstream sequence)
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