(used for variant description)
(last modified January 23, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_014239.3 in the EIF2B2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013333.1, covering EIF2B2 transcript NM_014239.3.
(upstream sequence)
. . g.5022
ctcgcccgccccggaagtgcaa c.-61
. . . . . . g.5082
actgtgtggtctggcaggtgtggattccgccggtgaaggctgaaggcagctaccttaaag c.-1
. . . . . . g.5142
ATGCCGGGATCCGCAGCGAAGGGCTCGGAGTTGTCAGAGAGGATCGAGAGCTTCGTGGAG c.60
M P G S A A K G S E L S E R I E S F V E p.20
. . . . . . g.5202
ACCCTGAAGCGGGGTGGTGGGCCGCGCAGCTCCGAGGAAATGGCTCGGGAGACCCTAGGG c.120
T L K R G G G P R S S E E M A R E T L G p.40
. . . . | 02 . . g.5383
TTGCTGCGCCAGATCATCACGGACCACCGCTGGAGCAACGCGG | GGGAGCTGATGGAGCTG c.180
L L R Q I I T D H R W S N A G | E L M E L p.60
. . . . . . g.5443
ATCCGCAGAGAGGGCAGGAGGATGACGGCCGCTCAGCCCTCCGAGACCACCGTGGGCAAC c.240
I R R E G R R M T A A Q P S E T T V G N p.80
. . . . | 03 . . g.5658
ATGGTGCGGAGAGTGCTCAAGATTATCCGGGAGGAGTATGGCAG | ACTCCATGGACGCAGC c.300
M V R R V L K I I R E E Y G R | L H G R S p.100
. . . . . . g.5718
GACGAGAGTGATCAGCAGGAGTCCCTGCACAAACTGTTGACATCCGGAGGCCTAAACGAG c.360
D E S D Q Q E S L H K L L T S G G L N E p.120
. . . . . . g.5778
GATTTCAGCTTCCATTATGCCCAACTCCAGTCCAACATCATTGAGGCGATTAATGAGCTG c.420
D F S F H Y A Q L Q S N I I E A I N E L p.140
. | 04 . . . . . g.6875
CTAGTGGAGCTGG | AAGGGACAATGGAGAACATTGCAGCCCAGGCTCTGGAGCACATTCAC c.480
L V E L E | G T M E N I A A Q A L E H I H p.160
. . . . . . g.6935
TCCAATGAGGTGATCATGACCATTGGCTTCTCCCGAACAGTAGAGGCCTTCCTCAAAGAG c.540
S N E V I M T I G F S R T V E A F L K E p.180
. . . . . | 05. g.7960
GCTGCCCGAAAGAGGAAATTCCATGTCATTGTAGCAGAGTGTGCTCCTTTCTGCCAG | GGT c.600
A A R K R K F H V I V A E C A P F C Q | G p.200
. . . . . . g.8020
CATGAAATGGCTGTGAATTTGTCCAAAGCAGGTATTGAGACAACTGTCATGACTGATGCT c.660
H E M A V N L S K A G I E T T V M T D A p.220
. . . | 06 . . . g.8695
GCCATTTTTGCCGTTATGTCAAGAGTCAACAAG | GTGATCATTGGCACGAAGACCATCCTG c.720
A I F A V M S R V N K | V I I G T K T I L p.240
. . . . . . g.8755
GCCAATGGGGCCCTGAGAGCTGTGACAGGAACTCACACTCTGGCACTGGCAGCAAAACAC c.780
A N G A L R A V T G T H T L A L A A K H p.260
. . . . . | 07 . g.9822
CATTCCACCCCACTCATCGTCTGTGCACCTATGTTCAAACTTTCTCCACAG | TTCCCCAAT c.840
H S T P L I V C A P M F K L S P Q | F P N p.280
. . . . . | 08 g.11124
GAAGAAGACTCATTTCATAAGTTTGTGGCTCCTGAAGAAGTCCTGCCATTCACAGAAG | GG c.900
E E D S F H K F V A P E E V L P F T E G | p.300
. . . . . . g.11184
GACATTCTGGAGAAGGTCAGCGTGCATTGCCCTGTGTTTGACTACGTTCCCCCAGAGCTC c.960
D I L E K V S V H C P V F D Y V P P E L p.320
. . . . . . g.11244
ATTACCCTCTTTATCTCCAACATTGGTGGGAATGCACCTTCCTACATCTACCGCCTGATG c.1020
I T L F I S N I G G N A P S Y I Y R L M p.340
. . . g.11280
AGTGAACTCTACCATCCTGATGATCATGTTTTATGA c.1056
S E L Y H P D D H V L X p.351
. . . . . . g.11340
ccgaccacacgtgtcctaagcagattgcttaggcagatacagaatgaagaggagacttga c.*60
. . . . . . g.11400
gtgttgctgctgaagcacatccttgcaatgtgggagtgcacaggagtccacctaaaaaaa c.*120
. . . . . . g.11460
aaatccttgatactgttgcctgcctttttagtcaccccgtaacaagggcacacatccagg c.*180
. . . . . . g.11520
actgtgtcttgcctttcagatcttaacagagcagcagggcttaacttgttgattttggag c.*240
. . . . . . g.11580
cctcttagtgacctggttgcgtctgtgtcaggaacttaaactttctggttcagtagtgtg c.*300
. . . . . . g.11640
ttaaacataacactgaataccttactgggatacagatttttgctcagaaatggctatgac c.*360
. . . . g.11683
actttttctaggctctaccaataaaagccacttgaaggttcca c.*403
(downstream sequence)
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