Canonical Allele Identifier: CA347591343

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874552A>G (hg19) ; chr2:g.88575034A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575034A>G , CM000664.2:g.88575034A>G	GRCh38
NC_000002.11:g.88874552A>G , CM000664.1:g.88874552A>G	GRCh37
NC_000002.10:g.88655667A>G	NCBI36
NG_016424.1:g.57543T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2277T>C
ENST00000682276.1:n.1894T>C
ENST00000682892.1:c.1996T>C	ENSP00000507214.1:p.Ser666Pro
ENST00000682952.1:n.2088T>C
ENST00000684455.1:c.1662T>C
ENST00000684642.1:c.1846T>C	ENSP00000507355.1:p.Ser616Pro
ENST00000684740.1:n.2627T>C
ENST00000303236.9:c.2449T>C MANE Select	ENSP00000307235.3:p.Ser817Pro
ENST00000652099.1:c.2643T>C
ENST00000652736.1:n.2325T>C
ENST00000303236.7:c.2449T>C	ENSP00000307235.3:p.Ser817Pro
ENST00000415570.1:c.2086T>C	ENSP00000412076.1:p.Ser696Pro
ENST00000419748.5:c.1996T>C	ENSP00000408325.1:p.Ser666Pro
ENST00000470706.1:n.92T>C
NM_001313915.1:c.1996T>C	NP_001300844.1:p.Ser666Pro
NM_004836.5:c.2449T>C	NP_004827.4:p.Ser817Pro
NM_004836.6:c.2449T>C	NP_004827.4:p.Ser817Pro
NR_110236.1:n.1171A>G
XM_005264649.3:c.1765T>C	XP_005264706.1:p.Ser589Pro
XM_017005376.2:c.1765T>C	XP_016860865.1:p.Ser589Pro
NM_004836.7:c.2449T>C MANE Select	NP_004827.4:p.Ser817Pro
NM_001313915.2:c.1996T>C	NP_001300844.1:p.Ser666Pro