(used for variant description)
(last modified January 13, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000536.2 in the RAG2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007573.1, covering RAG2 transcript NM_000536.2.
(upstream sequence)
g.4982
aagaacat c.-181
. . . . . . g.5042
ctgtaggcacacatacacactctctttacagtcagccttctgcttgccacagtcatagtg c.-121
. . . . . . g.5102
ggcagtcagtgaatcttccccaagtgctgacaattaatacctggtttagcggcaaagatt c.-61
. . . . | 02 . . g.9068
cagagaggcgtgagcagcccctctggccttcag | acaaaaatctacgtaccatcagaaact c.-1
. . . . . . g.9128
ATGTCTCTGCAGATGGTAACAGTCAGTAATAACATAGCCTTAATTCAGCCAGGCTTCTCA c.60
M S L Q M V T V S N N I A L I Q P G F S p.20
. . . . . . g.9188
CTGATGAATTTTGATGGACAAGTTTTCTTCTTTGGACAAAAAGGCTGGCCCAAAAGATCC c.120
L M N F D G Q V F F F G Q K G W P K R S p.40
. . . . . . g.9248
TGCCCCACTGGAGTTTTCCATCTGGATGTAAAGCATAACCATGTCAAACTGAAGCCTACA c.180
C P T G V F H L D V K H N H V K L K P T p.60
. . . . . . g.9308
ATTTTCTCTAAGGATTCCTGCTACCTCCCTCCTCTTCGCTACCCAGCCACTTGCACATTC c.240
I F S K D S C Y L P P L R Y P A T C T F p.80
. . . . . . g.9368
AAAGGCAGCTTGGAGTCTGAAAAGCATCAATACATCATCCATGGAGGGAAAACACCAAAC c.300
K G S L E S E K H Q Y I I H G G K T P N p.100
. . . . . . g.9428
AATGAGGTTTCAGATAAGATTTATGTCATGTCTATTGTTTGCAAGAACAACAAAAAGGTT c.360
N E V S D K I Y V M S I V C K N N K K V p.120
. . . . . . g.9488
ACTTTTCGCTGCACAGAGAAAGACTTGGTAGGAGATGTTCCTGAAGCCAGATATGGTCAT c.420
T F R C T E K D L V G D V P E A R Y G H p.140
. . . . . . g.9548
TCCATTAATGTGGTGTACAGCCGAGGGAAAAGTATGGGTGTTCTCTTTGGAGGACGCTCA c.480
S I N V V Y S R G K S M G V L F G G R S p.160
. . . . . . g.9608
TACATGCCTTCTACCCACAGAACCACAGAAAAATGGAATAGTGTAGCTGACTGCCTGCCC c.540
Y M P S T H R T T E K W N S V A D C L P p.180
. . . . . . g.9668
TGTGTTTTCCTGGTGGATTTTGAATTTGGGTGTGCTACATCATACATTCTTCCAGAACTT c.600
C V F L V D F E F G C A T S Y I L P E L p.200
. . . . . . g.9728
CAGGATGGGCTATCTTTTCATGTCTCTATTGCCAAAAATGACACCATCTATATTTTAGGA c.660
Q D G L S F H V S I A K N D T I Y I L G p.220
. . . . . . g.9788
GGACATTCACTTGCCAATAATATCCGGCCTGCCAACCTGTACAGAATAAGGGTTGATCTT c.720
G H S L A N N I R P A N L Y R I R V D L p.240
. . . . . . g.9848
CCCCTGGGTAGCCCAGCTGTGAATTGCACAGTCTTGCCAGGAGGAATCTCTGTCTCCAGT c.780
P L G S P A V N C T V L P G G I S V S S p.260
. . . . . . g.9908
GCAATCCTGACTCAAACTAACAATGATGAATTTGTTATTGTTGGTGGCTATCAGCTTGAA c.840
A I L T Q T N N D E F V I V G G Y Q L E p.280
. . . . . . g.9968
AATCAAAAAAGAATGATCTGCAACATCATCTCTTTAGAGGACAACAAGATAGAAATTCGT c.900
N Q K R M I C N I I S L E D N K I E I R p.300
. . . . . . g.10028
GAGATGGAGACCCCAGATTGGACCCCAGACATTAAGCACAGCAAGATATGGTTTGGAAGC c.960
E M E T P D W T P D I K H S K I W F G S p.320
. . . . . . g.10088
AACATGGGAAATGGAACTGTTTTTCTTGGCATACCAGGAGACAATAAACAAGTTGTTTCA c.1020
N M G N G T V F L G I P G D N K Q V V S p.340
. . . . . . g.10148
GAAGGATTCTATTTCTATATGTTGAAATGTGCTGAAGATGATACTAATGAAGAGCAGACA c.1080
E G F Y F Y M L K C A E D D T N E E Q T p.360
. . . . . . g.10208
ACATTCACAAACAGTCAAACATCAACAGAAGATCCAGGGGATTCCACTCCCTTTGAAGAC c.1140
T F T N S Q T S T E D P G D S T P F E D p.380
. . . . . . g.10268
TCTGAAGAATTTTGTTTCAGTGCAGAAGCAAATAGTTTTGATGGTGATGATGAATTTGAC c.1200
S E E F C F S A E A N S F D G D D E F D p.400
. . . . . . g.10328
ACCTATAATGAAGATGATGAAGAAGATGAGTCTGAGACAGGCTACTGGATTACATGCTGC c.1260
T Y N E D D E E D E S E T G Y W I T C C p.420
. . . . . . g.10388
CCTACTTGTGATGTGGATATCAACACTTGGGTACCATTCTATTCAACTGAGCTCAACAAA c.1320
P T C D V D I N T W V P F Y S T E L N K p.440
. . . . . . g.10448
CCCGCCATGATCTACTGCTCTCATGGGGATGGGCACTGGGTCCATGCTCAGTGCATGGAT c.1380
P A M I Y C S H G D G H W V H A Q C M D p.460
. . . . . . g.10508
CTGGCAGAACGCACACTCATCCATCTGTCAGCAGGAAGCAACAAGTATTACTGCAATGAG c.1440
L A E R T L I H L S A G S N K Y Y C N E p.480
. . . . . . g.10568
CATGTGGAGATAGCAAGAGCTCTACACACTCCCCAAAGAGTCCTACCCTTAAAAAAGCCT c.1500
H V E I A R A L H T P Q R V L P L K K P p.500
. . . . . . g.10628
CCAATGAAATCCCTCCGTAAAAAAGGTTCTGGAAAAATCTTGACTCCTGCCAAGAAATCC c.1560
P M K S L R K K G S G K I L T P A K K S p.520
. . g.10652
TTTCTTAGAAGGTTGTTTGATTAG c.1584
F L R R L F D X p.527
. . . . . . g.10712
ttttgcaaaagcctttcagattcaggtgtatggaatttttgaatctatttttaaaatcat c.*60
. . . . . . g.10772
aacattgattttaaaaatacatttttgtttatttaaaatgcctatgttttcttttagtta c.*120
. . . . . . g.10832
catgaattaagggccagaaaaaagtgtttataatgcaatgataaataaagtcattctaga c.*180
. . . . . . g.10892
ccctatacattttgaaaatattttacccaaatactcaatttactaatttattcttcactg c.*240
. . . . . . g.10952
aggatttctgatctgattttttattcaacaaaccttaaacacccagaagcagtaataatc c.*300
. . . . . . g.11012
atcgaggtatgtttatatttattatataagtcttggtaacaaataacctataaagtgttt c.*360
. . . . . . g.11072
atgacaaatttagccaataaagaaattaacacccaaaagaattaaattgattattttgtg c.*420
. . . . . . g.11132
caacataacaattcggcagttggccaaaacttaaaagcaagatctactacatcccacatt c.*480
. . . . . . g.11192
agtgttctttatataccttcaagcaaccctttggattatgcccatgaacaagttagtttc c.*540
. . . . . . g.11252
tcatagctttacagatgtagatataaatataaatatatgtatacatatagatagataatg c.*600
. . . . g.11294
ttctccactgacacaaaagaagaaataaataatctacatcaa c.*642
(downstream sequence)
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