(used for variant description)
(last modified June 11, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001958.3 in the EEF1A2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_034083.1, covering EEF1A2 transcript NM_001958.3.
(upstream sequence)
. . g.5029
gccccgcccccgcccgcggcgcgtttctc c.-301
. . . . . . g.5089
ccccgcctcccgcgtccgtctttgcagcccgcgcctcccgcatcgcctcgcgtccccgtg c.-241
. . . . . . g.5149
gcgcccgcccgcgcgcgtccgcgccccgccccctcccgcgcggttccgcattggcgtgct c.-181
. . . . . . g.5209
gcagggcgcggtgcactgcgccgccaccgtcaataggtggaccccctcccggagataaaa c.-121
. . . . . | 02 g.6492
ccgccggcgccggcgccgccagtccctctggctgagacctcggctccgg | aatcactgcag c.-61
. . . . . . g.6552
cccccctcgccctgagccagagcaccccgggtcccgccagcccctcacactcccagcaaa c.-1
. . . . . . g.6612
ATGGGCAAGGAGAAGACCCACATCAACATCGTGGTCATCGGCCACGTGGACTCCGGAAAG c.60
M G K E K T H I N I V V I G H V D S G K p.20
. . . . . . g.6672
TCCACCACCACGGGCCACCTCATCTACAAATGCGGAGGTATTGACAAAAGGACCATTGAG c.120
S T T T G H L I Y K C G G I D K R T I E p.40
. . | 03 . . . . g.8316
AAGTTCGAGAAGGAGGCGGCTGAG | ATGGGGAAGGGATCCTTCAAGTATGCCTGGGTGCTG c.180
K F E K E A A E | M G K G S F K Y A W V L p.60
. . . . . . g.8376
GACAAGCTGAAGGCGGAGCGTGAGCGCGGCATCACCATCGACATCTCCCTCTGGAAGTTC c.240
D K L K A E R E R G I T I D I S L W K F p.80
. . . . . . g.8436
GAGACCACCAAGTACTACATCACCATCATCGATGCCCCCGGCCACCGCGACTTCATCAAG c.300
E T T K Y Y I T I I D A P G H R D F I K p.100
. . | 04 . . . . g.9250
AACATGATCACGGGTACATCCCAG | GCGGACTGCGCAGTGCTGATCGTGGCGGCGGGCGTG c.360
N M I T G T S Q | A D C A V L I V A A G V p.120
. . . . . . g.9310
GGCGAGTTCGAGGCGGGCATCTCCAAGAATGGGCAGACGCGGGAGCATGCCCTGCTGGCC c.420
G E F E A G I S K N G Q T R E H A L L A p.140
. . . . . . g.9370
TACACGCTGGGTGTGAAGCAGCTCATCGTGGGCGTGAACAAAATGGACTCCACAGAGCCG c.480
Y T L G V K Q L I V G V N K M D S T E P p.160
. . . . . . g.9430
GCCTACAGCGAGAAGCGCTACGACGAGATCGTCAAGGAAGTCAGCGCCTACATCAAGAAG c.540
A Y S E K R Y D E I V K E V S A Y I K K p.180
. . . . . . g.9490
ATCGGCTACAACCCGGCCACCGTGCCCTTTGTGCCCATCTCCGGCTGGCACGGTGACAAC c.600
I G Y N P A T V P F V P I S G W H G D N p.200
. . | 05 . . . . g.11067
ATGCTGGAGCCCTCCCCCAAC | ATGCCGTGGTTCAAGGGCTGGAAGGTGGAGCGTAAGGAG c.660
M L E P S P N | M P W F K G W K V E R K E p.220
. . . . . . g.11127
GGCAACGCAAGCGGCGTGTCCCTGCTGGAGGCCCTGGACACCATCCTGCCCCCCACGCGC c.720
G N A S G V S L L E A L D T I L P P T R p.240
. . . . . | 06 . g.13588
CCCACGGACAAGCCCCTGCGCCTGCCGCTGCAGGACGTGTACAAGATTGGCG | GCATTGGC c.780
P T D K P L R L P L Q D V Y K I G G | I G p.260
. . . . . . g.13648
ACGGTGCCCGTGGGCCGGGTGGAGACCGGCATCCTGCGGCCGGGCATGGTGGTGACCTTT c.840
T V P V G R V E T G I L R P G M V V T F p.280
. . . . . . g.13708
GCGCCAGTGAACATCACCACTGAGGTGAAGTCAGTGGAGATGCACCACGAGGCTCTGAGC c.900
A P V N I T T E V K S V E M H H E A L S p.300
. . . . . . g.13768
GAAGCTCTGCCCGGCGACAACGTCGGCTTCAATGTGAAGAACGTGTCGGTGAAGGACATC c.960
E A L P G D N V G F N V K N V S V K D I p.320
. . . . . . g.13828
CGGCGGGGCAACGTGTGTGGGGACAGCAAGTCTGACCCGCCGCAGGAGGCTGCTCAGTTC c.1020
R R G N V C G D S K S D P P Q E A A Q F p.340
| 07 . . . . . g.15214
ACCTCCCAG | GTCATCATCCTGAACCACCCGGGGCAGATTAGCGCCGGCTACTCCCCGGTC c.1080
T S Q | V I I L N H P G Q I S A G Y S P V p.360
. . . . . . g.15274
ATCGACTGCCACACAGCCCACATCGCCTGCAAGTTTGCGGAGCTGAAGGAGAAGATTGAC c.1140
I D C H T A H I A C K F A E L K E K I D p.380
. . . . . . g.15334
CGGCGCTCTGGCAAGAAGCTGGAGGACAACCCCAAGTCCCTGAAGTCTGGAGACGCGGCC c.1200
R R S G K K L E D N P K S L K S G D A A p.400
. . . . . . g.15394
ATCGTGGAGATGGTGCCGGGAAAGCCCATGTGTGTGGAGAGCTTCTCCCAGTACCCGCCT c.1260
I V E M V P G K P M C V E S F S Q Y P P p.420
| 08 . . . . . . g.15946
CTCG | GCCGCTTCGCCGTGCGCGACATGAGGCAGACGGTGGCCGTAGGCGTCATCAAGAAC c.1320
L G | R F A V R D M R Q T V A V G V I K N p.440
. . . . . . g.16006
GTGGAGAAGAAGAGCGGCGGCGCCGGCAAGGTCACCAAGTCGGCGCAGAAGGCGCAGAAG c.1380
V E K K S G G A G K V T K S A Q K A Q K p.460
. g.16018
GCGGGCAAGTGA c.1392
A G K X p.463
. . . . . . g.16078
agcgcgggcgcccgcggcgcgaccctccccggcggcgccgcgctccgaaccccggcccgg c.*60
. . . . . . g.16138
cccccgccccgcccccgccccgcgcgccgctccggcgccccgcacccccgccaggcgcat c.*120
. . . . . . g.16198
gtctgcacctccgcttgccagaggccctcggtcagcgactggatgctcgccatcaaggtc c.*180
. . . . . . g.16258
cagtggaagttcttcaagaggaaaggcgcccccgccccaggcttccgcgcccagcgctcg c.*240
. . . . g.16302
ccacgctcagtgcccgttttaccaataaactgagcgaccccaga c.*284
(downstream sequence)
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