(used for variant description)
(last modified June 6, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_002226.4 in the JAG2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000014.8, covering JAG2 transcript NM_002226.4.
(upstream sequence)
. . . . g.5044
ctcatgcatatgcaggtgcgcgggtgacgaatgggcgagcgagc c.-361
. . . . . . g.5104
tgtcagtctcgttccgaacttgttggctgcggtgccgggagcgcgggcgcgcagagccga c.-301
. . . . . . g.5164
ggccgggacccgctgccttcaccgccgccgccgtcgccgccgggtgggagccgggccggg c.-241
. . . . . . g.5224
cagccggagcgcggccgccagcgagccggagctgccgccgcccctgcacgcccgccgccc c.-181
. . . . . . g.5284
aggcccgcgcgccgcggcgctgcgctcgaccccgcccgcgccgccgccgccgccgcctct c.-121
. . . . . . g.5344
gccgctgccgctgcctctgcgggcgctcggagggcgggcgggcgctgggaggccggcgcg c.-61
. . . . . . g.5404
gcggctgggagccgggcgcgggcggcggcggcggggccgggcgggcgggtcgcgggggca c.-1
. . . . . . g.5464
ATGCGGGCGCAGGGCCGGGGGCGCCTTCCCCGGCGGCTGCTGCTGCTGCTGGCGCTCTGG c.60
M R A Q G R G R L P R R L L L L L A L W p.20
| 02 . . . . . . g.5771
GTGCAG | GCGGCGCGGCCCATGGGCTATTTCGAGCTGCAGCTGAGCGCGCTGCGGAACGTG c.120
V Q | A A R P M G Y F E L Q L S A L R N V p.40
. . . . . . g.5831
AACGGGGAGCTGCTGAGCGGCGCCTGCTGTGACGGCGACGGCCGGACAACGCGCGCGGGG c.180
N G E L L S G A C C D G D G R T T R A G p.60
. . . . . . g.5891
GGCTGCGGCCACGACGAGTGCGACACGTACGTGCGCGTGTGCCTTAAGGAGTACCAGGCC c.240
G C G H D E C D T Y V R V C L K E Y Q A p.80
. . . . . . g.5951
AAGGTGACGCCCACGGGGCCCTGCAGCTACGGCCACGGCGCCACGCCCGTGCTGGGCGGC c.300
K V T P T G P C S Y G H G A T P V L G G p.100
. . . . . . g.6011
AACTCCTTCTACCTGCCGCCGGCGGGCGCTGCGGGGGACCGAGCGCGGGCGCGGGCCCGG c.360
N S F Y L P P A G A A G D R A R A R A R p.120
. . . . . | 03. g.16064
GCCGGCGGCGACCAGGACCCGGGCCTCGTCGTCATCCCCTTCCAGTTCGCCTGGCCG | CGC c.420
A G G D Q D P G L V V I P F Q F A W P | R p.140
. . . . . | 04 . g.17840
TCCTTTACCCTCATCGTGGAGGCCTGGGACTGGGACAACGATACCACCCCGAATG | AGGAG c.480
S F T L I V E A W D W D N D T T P N E | E p.160
. . . . . . g.17900
CTGCTGATCGAGCGAGTGTCGCATGCCGGCATGATCAACCCGGAGGACCGCTGGAAGAGC c.540
L L I E R V S H A G M I N P E D R W K S p.180
. . . . . . g.17960
CTGCACTTCAGCGGCCACGTGGCGCACCTGGAGCTGCAGATCCGCGTGCGCTGCGACGAG c.600
L H F S G H V A H L E L Q I R V R C D E p.200
. . . . . . g.18020
AACTACTACAGCGCCACTTGCAACAAGTTCTGCCGGCCCCGCAACGACTTTTTCGGCCAC c.660
N Y Y S A T C N K F C R P R N D F F G H p.220
. . . . . . g.18080
TACACCTGCGACCAGTACGGCAACAAGGCCTGCATGGACGGCTGGATGGGCAAGGAGTGC c.720
Y T C D Q Y G N K A C M D G W M G K E C p.240
| 05. . . . . . g.18255
AAGGAAG | CTGTGTGTAAACAAGGGTGTAATTTGCTCCACGGGGGATGCACCGTGCCTGGG c.780
K E A | V C K Q G C N L L H G G C T V P G p.260
| 06 . . . . . g.21585
GAGTGCAG | GTGCAGCTACGGCTGGCAAGGGAGGTTCTGCGATGAGTGTGTCCCCTACCCC c.840
E C R | C S Y G W Q G R F C D E C V P Y P p.280
. . . . . . g.21645
GGCTGCGTGCATGGCAGTTGTGTGGAGCCCTGGCAGTGCAACTGTGAGACCAACTGGGGC c.900
G C V H G S C V E P W Q C N C E T N W G p.300
. | 07 . . . . g.21808
GGCCTGCTCTGTGACAAAG | ACCTGAACTACTGTGGCAGCCACCACCCCTGCACCAACGGA c.960
G L L C D K D | L N Y C G S H H P C T N G p.320
. . . . . . g.21868
GGCACGTGCATCAACGCCGAGCCTGACCAGTACCGCTGCACCTGCCCTGACGGCTACTCG c.1020
G T C I N A E P D Q Y R C T C P D G Y S p.340
. | 08 . . . . g.22126
GGCAGGAACTGTGAGAAGG | CTGAGCACGCCTGCACCTCCAACCCGTGTGCCAACGGGGGC c.1080
G R N C E K A | E H A C T S N P C A N G G p.360
. . . . . . g.22186
TCTTGCCATGAGGTGCCGTCCGGCTTCGAATGCCACTGCCCATCGGGCTGGAGCGGGCCC c.1140
S C H E V P S G F E C H C P S G W S G P p.380
. | 09 . . . . . g.22475
ACCTGTGCCCTTG | ACATCGATGAGTGTGCTTCGAACCCGTGTGCGGCCGGTGGCACCTGT c.1200
T C A L D | I D E C A S N P C A A G G T C p.400
. . . . . . g.22535
GTGGACCAGGTGGACGGCTTTGAGTGCATCTGCCCCGAGCAGTGGGTGGGGGCCACCTGC c.1260
V D Q V D G F E C I C P E Q W V G A T C p.420
| 10. . . . . . g.22773
CAGCTGG | ACGCCAATGAGTGTGAAGGGAAGCCATGCCTTAACGCTTTTTCTTGCAAAAAC c.1320
Q L D | A N E C E G K P C L N A F S C K N p.440
. . . . . . g.22833
CTGATTGGCGGCTATTACTGTGATTGCATCCCGGGCTGGAAGGGCATCAACTGCCATATC c.1380
L I G G Y Y C D C I P G W K G I N C H I p.460
| 11 . . . . | 12 . g.23059
A | ACGTCAACGACTGTCGCGGGCAGTGTCAGCATGGGGGCACCTGCAAG | GACCTGGTGAAC c.1440
N | V N D C R G Q C Q H G G T C K | D L V N p.480
. . . . . . g.23119
GGGTACCAGTGTGTGTGCCCACGGGGCTTCGGAGGCCGGCATTGCGAGCTGGAACGAGAC c.1500
G Y Q C V C P R G F G G R H C E L E R D p.500
. . . . . . g.23179
GAGTGTGCCAGCAGCCCCTGCCACAGCGGCGGCCTCTGCGAGGACCTGGCCGACGGCTTC c.1560
E C A S S P C H S G G L C E D L A D G F p.520
. . . . | 13 . . g.24522
CACTGCCACTGCCCCCAGGGCTTCTCCGGGCCTCTCTGTGAG | GTGGATGTCGACCTTTGT c.1620
H C H C P Q G F S G P L C E | V D V D L C p.540
. . . . . . g.24582
GAGCCAAGCCCCTGCCGGAACGGCGCTCGCTGCTATAACCTGGAGGGTGACTATTACTGC c.1680
E P S P C R N G A R C Y N L E G D Y Y C p.560
. . . . . . g.24642
GCCTGCCCTGATGACTTTGGTGGCAAGAACTGCTCCGTGCCCCGCGAGCCGTGCCCTGGC c.1740
A C P D D F G G K N C S V P R E P C P G p.580
. | 14 . . . . . g.24782
GGGGCCTGCAGAG | TGATCGATGGCTGCGGGTCAGACGCGGGGCCTGGGATGCCTGGCACA c.1800
G A C R V | I D G C G S D A G P G M P G T p.600
. . . . . . g.24842
GCAGCCTCCGGCGTGTGTGGCCCCCATGGACGCTGCGTCAGCCAGCCAGGGGGCAACTTT c.1860
A A S G V C G P H G R C V S Q P G G N F p.620
. . . . | 15 . . g.24980
TCCTGCATCTGTGACAGTGGCTTTACTGGCACCTACTGCCATGAGA | ACATTGACGACTGC c.1920
S C I C D S G F T G T Y C H E N | I D D C p.640
. . . . . . g.25040
CTGGGCCAGCCCTGCCGCAATGGGGGCACATGCATCGATGAGGTGGACGCCTTCCGCTGC c.1980
L G Q P C R N G G T C I D E V D A F R C p.660
. . . . | 16 . . g.25405
TTCTGCCCCAGCGGCTGGGAGGGCGAGCTCTGCGACACCA | ATCCCAACGACTGCCTTCCC c.2040
F C P S G W E G E L C D T N | P N D C L P p.680
. . . . . . g.25465
GATCCCTGCCACAGCCGCGGCCGCTGCTACGACCTGGTCAATGACTTCTACTGTGCGTGC c.2100
D P C H S R G R C Y D L V N D F Y C A C p.700
. . . | 17 . . . g.25621
GACGACGGCTGGAAGGGCAAGACCTGCCACTCAC | GCGAGTTCCAGTGCGATGCCTACACC c.2160
D D G W K G K T C H S R | E F Q C D A Y T p.720
. . . . . . g.25681
TGCAGCAACGGTGGCACCTGCTACGACAGCGGCGACACCTTCCGCTGCGCCTGCCCCCCC c.2220
C S N G G T C Y D S G D T F R C A C P P p.740
. . | 18 . . . g.25968
GGCTGGAAGGGCAGCACCTGCGCCGTCG | CCAAGAACAGCAGCTGCCTGCCCAACCCCTGT c.2280
G W K G S T C A V A | K N S S C L P N P C p.760
. . . . . . g.26028
GTGAATGGTGGCACCTGCGTGGGCAGCGGGGCCTCCTTCTCCTGCATCTGCCGGGACGGC c.2340
V N G G T C V G S G A S F S C I C R D G p.780
. . | 19 . . . | 20 . g.26420
TGGGAGGGTCGTACTTGCACTCACA | ATACCAACGACTGCAACCCTCTGCCTTG | CTACAAT c.2400
W E G R T C T H N | T N D C N P L P C | Y N p.800
. . . . . . g.26480
GGTGGCATCTGTGTTGACGGCGTCAACTGGTTCCGCTGCGAGTGTGCACCTGGCTTCGCG c.2460
G G I C V D G V N W F R C E C A P G F A p.820
. | 21 . . . . g.27141
GGGCCTGACTGCCGCATCA | ACATCGACGAGTGCCAGTCCTCGCCCTGTGCCTACGGGGCC c.2520
G P D C R I N | I D E C Q S S P C A Y G A p.840
. . . . . . g.27201
ACGTGTGTGGATGAGATCAACGGGTATCGCTGTAGCTGCCCACCCGGCCGAGCCGGCCCC c.2580
T C V D E I N G Y R C S C P P G R A G P p.860
. | 22 . . . . . g.27371
CGGTGCCAGGAAG | TGATCGGGTTCGGGAGATCCTGCTGGTCCCGGGGCACTCCGTTCCCA c.2640
R C Q E V | I G F G R S C W S R G T P F P p.880
. . . . . . g.27431
CACGGAAGCTCCTGGGTGGAAGACTGCAACAGCTGCCGCTGCCTGGATGGCCGCCGTGAC c.2700
H G S S W V E D C N S C R C L D G R R D p.900
| 23 . . . . . g.27902
TGCAGCAAG | GTGTGGTGCGGATGGAAGCCTTGTCTGCTGGCCGGCCAGCCCGAGGCCCTG c.2760
C S K | V W C G W K P C L L A G Q P E A L p.920
. . . . . . g.27962
AGCGCCCAGTGCCCACTGGGGCAAAGGTGCCTGGAGAAGGCCCCAGGCCAGTGTCTGCGA c.2820
S A Q C P L G Q R C L E K A P G Q C L R p.940
. . . . . . g.28022
CCACCCTGTGAGGCCTGGGGGGAGTGCGGCGCAGAAGAGCCACCGAGCACCCCCTGCCTG c.2880
P P C E A W G E C G A E E P P S T P C L p.960
. . . . . . g.28082
CCACGCTCCGGCCACCTGGACAATAACTGTGCCCGCCTCACCTTGCATTTCAACCGTGAC c.2940
P R S G H L D N N C A R L T L H F N R D p.980
. | 24 . . . . . g.28811
CACGTGCCCCAG | GGCACCACGGTGGGCGCCATTTGCTCCGGGATCCGCTCCCTGCCAGCC c.3000
H V P Q | G T T V G A I C S G I R S L P A p.1000
. . . . . . g.28871
ACAAGGGCTGTGGCACGGGACCGCCTGCTGGTGTTGCTTTGCGACCGGGCGTCCTCGGGG c.3060
T R A V A R D R L L V L L C D R A S S G p.1020
. . | 25 . . . . g.30222
GCCAGTGCTGTGGAGGTGGCCGTG | TCCTTCAGCCCTGCCAGGGACCTGCCTGACAGCAGC c.3120
A S A V E V A V | S F S P A R D L P D S S p.1040
. . . . . . g.30282
CTGATCCAGGGCGCGGCCCACGCCATCGTGGCCGCCATCACCCAGCGGGGGAACAGCTCA c.3180
L I Q G A A H A I V A A I T Q R G N S S p.1060
. . . . . . g.30342
CTGCTCCTGGCTGTCACCGAGGTCAAGGTGGAGACGGTTGTTACGGGCGGCTCTTCCACA c.3240
L L L A V T E V K V E T V V T G G S S T p.1080
| 26 . . . . . . g.30713
G | GTCTGCTGGTGCCTGTGCTGTGTGGTGCCTTCAGCGTGCTGTGGCTGGCGTGCGTGGTC c.3300
G | L L V P V L C G A F S V L W L A C V V p.1100
. . . . . . g.30773
CTGTGCGTGTGGTGGACACGCAAGCGCAGGAAAGAGCGGGAGAGGAGCCGGCTGCCGCGG c.3360
L C V W W T R K R R K E R E R S R L P R p.1120
. . . . . . g.30833
GAGGAGAGCGCCAACAACCAGTGGGCCCCGCTCAACCCCATCCGCAACCCCATTGAGCGG c.3420
E E S A N N Q W A P L N P I R N P I E R p.1140
. . . . . . g.30893
CCGGGGGGCCACAAGGACGTGCTCTACCAGTGCAAGAACTTCACGCCGCCGCCGCGCAGG c.3480
P G G H K D V L Y Q C K N F T P P P R R p.1160
. . . . . . g.30953
GCGGACGAGGCGCTGCCCGGGCCGGCCGGCCACGCGGCCGTCAGGGAGGATGAGGAGGAC c.3540
A D E A L P G P A G H A A V R E D E E D p.1180
. . . . . . g.31013
GAGGATCTGGGCCGCGGTGAGGAGGACTCCCTGGAGGCGGAGAAGTTCCTCTCACACAAA c.3600
E D L G R G E E D S L E A E K F L S H K p.1200
. . . . . . g.31073
TTCACCAAAGATCCTGGCCGCTCGCCGGGGAGGCCGGCCCACTGGGCCTCAGGCCCCAAA c.3660
F T K D P G R S P G R P A H W A S G P K p.1220
. . . . . g.31130
GTGGACAACCGCGCGGTCAGGAGCATCAATGAGGCCCGCTACGCCGGCAAGGAGTAG c.3717
V D N R A V R S I N E A R Y A G K E X p.1238
. . . . . . g.31190
gggcggctgccagctgggccgggacccagggccctcggtgggagccatgccgtctgccgg c.*60
. . . . . . g.31250
acccggaggccgaggccatgtgcatagtttctttattttgtgtaaaaaaaccaccaaaaa c.*120
. . . . . . g.31310
caaaaaccaaatgtttattttctacgtttctttaaccttgtataaattattcagtaactg c.*180
. . . . . . g.31370
tcaggctgaaaacaatggagtattctcggatagttgctatttttgtaaagtttccgtgcg c.*240
. . . . . . g.31430
tggcactcgctgtatgaaaggagagagcaaagggtgtctgcgtcgtcaccaaatcgtagc c.*300
. . . . . . g.31490
gtttgttaccagaggttgtgcactgtttacagaatcttccttttattcctcactcgggtt c.*360
. . . . . . g.31550
tctctgtggctccaggccaaagtgccggtgagacccatggctgtgttggtgtggcccatg c.*420
. . . . . . g.31610
gctgttggtgggacccgtggctgatggtgtggcctgtggctgtcggtgggactcgtggct c.*480
. . . . . . g.31670
gtcaatgggacctgtggctgtcggtgggacctacggtggtcggtgggaccctggttattg c.*540
. . . . . . g.31730
atgtggccctggctgccggcacggcccgtggctgttgacgcacctgtggttgttagtggg c.*600
. . . . . . g.31790
gcctgaggtcatcggcgtggcccaaggctggcaggtcaacctcgcgcttgctggccagtc c.*660
. . . . . . g.31850
caccctgcctgccgtctgtgcttcctcctgcccagaacgcccgctccagcgatctctcca c.*720
. . . . . . g.31910
ctgtgctttcagaagtgcccttcctgctgcgcagttctcccatcctgggacggcggcagt c.*780
. . . . . . g.31970
attgaagctcgtgacaagtgccttcacacagacccctcgcaactgtccacgcgtgccgtg c.*840
. . . . . . g.32030
gcaccaggcgctgcccacctgccggccccggccgcccctcctcgtgaaagtgcatttttg c.*900
. . . . . . g.32090
taaatgtgtacatattaaaggaagcactctgtatatttgattgaataatgccaccattcc c.*960
. . . . . . g.32150
ggcctcccttgttctttcggtgctgtcccttttgtattgagagtgaggttgggggagagc c.*1020
. . . . . . g.32210
cacgccggcagagaggcttggggcagtggggcgcgtgctgggtattggcccacgtggctg c.*1080
. . . . . . g.32270
tggtggctgtagagggcgagacggttctgttgagtcggggcctgccagggcctcgaatgc c.*1140
. . . . . . g.32330
gttggcatgccaaggtggtggatgcaggtttggccaaaaccttcctgggaatggggaggg c.*1200
. . . . . . g.32390
gggtgtctaggtgcctggcacccgaccctgactaaaacagctgaaaacagttttataaaa c.*1260
. . . . . . g.32450
tagtataaaattgcttacccacgaatacgtatcaaggtcttaaggaattaacaggtcaaa c.*1320
. . . . . . g.32510
atttttattcattcatttattcctttgttttgcttggtcattcagaggcaaggtcagcat c.*1380
. . . . . . g.32570
ttgatggaggcaggagagaagcagcccttccacctggccctggagctggttttgcccctc c.*1440
. . . . . . g.32630
actgcttgagccaactggaacgtggcatggtggcctcagggctgggcatggaaggccgac c.*1500
. . . . . . g.32690
tccaaggctgactccgagccgcctgtcagtgatgtgcaagtctttaccctgctgtgaggg c.*1560
. . . . . . g.32750
gtaggaggtcaactgagtcaaggagcaaagccaagaaccagatctgtacaaaagagaaaa c.*1620
. . . . . . g.32810
aaaaagtcctgctgacagcctgggagtgaggctgccttgcacaggcagaacaaatgaata c.*1680
. . . g.32844
aatgaatgaacgaataaaaattttgacctggtaa c.*1714
(downstream sequence)
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