Canonical Allele Identifier: CA347591578

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874604C>A (hg19) ; chr2:g.88575086C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575086C>A , CM000664.2:g.88575086C>A	GRCh38
NC_000002.11:g.88874604C>A , CM000664.1:g.88874604C>A	GRCh37
NC_000002.10:g.88655719C>A	NCBI36
NG_016424.1:g.57491G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2225G>T
ENST00000682276.1:n.1842G>T
ENST00000682892.1:c.1944G>T	ENSP00000507214.1:p.Arg648Ser
ENST00000682952.1:n.2036G>T
ENST00000684455.1:c.1610G>T
ENST00000684642.1:c.1794G>T	ENSP00000507355.1:p.Arg598Ser
ENST00000684740.1:n.2575G>T
ENST00000303236.9:c.2397G>T MANE Select	ENSP00000307235.3:p.Arg799Ser
ENST00000652099.1:c.2591G>T
ENST00000652736.1:n.2273G>T
ENST00000303236.7:c.2397G>T	ENSP00000307235.3:p.Arg799Ser
ENST00000415570.1:c.2034G>T	ENSP00000412076.1:p.Arg678Ser
ENST00000419748.5:c.1944G>T	ENSP00000408325.1:p.Arg648Ser
ENST00000470706.1:n.49-9G>T
NM_001313915.1:c.1944G>T	NP_001300844.1:p.Arg648Ser
NM_004836.5:c.2397G>T	NP_004827.4:p.Arg799Ser
NM_004836.6:c.2397G>T	NP_004827.4:p.Arg799Ser
NR_110236.1:n.1223C>A
XM_005264649.3:c.1713G>T	XP_005264706.1:p.Arg571Ser
XM_017005376.2:c.1713G>T	XP_016860865.1:p.Arg571Ser
NM_004836.7:c.2397G>T MANE Select	NP_004827.4:p.Arg799Ser
NM_001313915.2:c.1944G>T	NP_001300844.1:p.Arg648Ser