Canonical Allele Identifier: CA347592542

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874815T>G (hg19) ; chr2:g.88575297T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575297T>G , CM000664.2:g.88575297T>G	GRCh38
NC_000002.11:g.88874815T>G , CM000664.1:g.88874815T>G	GRCh37
NC_000002.10:g.88655930T>G	NCBI36
NG_016424.1:g.57280A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.2014A>C
ENST00000682276.1:n.1631A>C
ENST00000682892.1:c.1733A>C	ENSP00000507214.1:p.Asp578Ala
ENST00000682952.1:n.1825A>C
ENST00000684455.1:c.1399A>C
ENST00000684642.1:c.1583A>C	ENSP00000507355.1:p.Asp528Ala
ENST00000684740.1:n.2364A>C
ENST00000303236.9:c.2186A>C MANE Select	ENSP00000307235.3:p.Asp729Ala
ENST00000652099.1:c.2380A>C
ENST00000652736.1:n.2062A>C
ENST00000303236.7:c.2186A>C	ENSP00000307235.3:p.Asp729Ala
ENST00000415570.1:c.1823A>C	ENSP00000412076.1:p.Asp608Ala
ENST00000419748.5:c.1733A>C	ENSP00000408325.1:p.Asp578Ala
ENST00000470706.1:n.48+64A>C
NM_001313915.1:c.1733A>C	NP_001300844.1:p.Asp578Ala
NM_004836.5:c.2186A>C	NP_004827.4:p.Asp729Ala
NM_004836.6:c.2186A>C	NP_004827.4:p.Asp729Ala
NR_110236.1:n.1434T>G
XM_005264649.3:c.1502A>C	XP_005264706.1:p.Asp501Ala
XR_939749.1:n.2465A>C
XM_017005376.2:c.1502A>C	XP_016860865.1:p.Asp501Ala
NM_004836.7:c.2186A>C MANE Select	NP_004827.4:p.Asp729Ala
NM_001313915.2:c.1733A>C	NP_001300844.1:p.Asp578Ala