Canonical Allele Identifier: CA347593939

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1674644035
• gnomAD v4: 2-88583429-C-A
• MyVariant Identifiers: chr2:g.88882947C>A (hg19) ; chr2:g.88583429C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583429C>A , CM000664.2:g.88583429C>A	GRCh38
NC_000002.11:g.88882947C>A , CM000664.1:g.88882947C>A	GRCh37
NC_000002.10:g.88664062C>A	NCBI36
NG_016424.1:g.49148G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1208+1G>T
ENST00000682892.1:c.1310+1G>T	ENSP00000507214.1:n.1310+1G>T
ENST00000682952.1:n.1402+1G>T
ENST00000684455.1:c.976+1G>T
ENST00000684642.1:c.1160+1G>T	ENSP00000507355.1:n.1160+1G>T
ENST00000303236.9:c.1763+1G>T MANE Select	ENSP00000307235.3:n.1763+1G>T
ENST00000652099.1:c.1957+1G>T
ENST00000652736.1:n.1639+1G>T
ENST00000303236.7:c.1763+1G>T	ENSP00000307235.3:n.1763+1G>T
ENST00000415570.1:c.1400+1G>T	ENSP00000412076.1:n.1400+1G>T
ENST00000419748.5:c.1310+1G>T	ENSP00000408325.1:n.1310+1G>T
NM_001313915.1:c.1310+1G>T	NP_001300844.1:n.1310+1G>T
NM_004836.5:c.1763+1G>T	NP_004827.4:n.1763+1G>T
NM_004836.6:c.1763+1G>T	NP_004827.4:n.1763+1G>T
XM_005264649.3:c.1079+1G>T	XP_005264706.1:n.1079+1G>T
XR_939749.1:n.1972+1G>T
XM_017005376.2:c.1079+1G>T	XP_016860865.1:n.1079+1G>T
NM_004836.7:c.1763+1G>T MANE Select	NP_004827.4:n.1763+1G>T
NM_001313915.2:c.1310+1G>T	NP_001300844.1:n.1310+1G>T