Canonical Allele Identifier: CA347592956

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874921A>G (hg19) ; chr2:g.88575403A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575403A>G , CM000664.2:g.88575403A>G	GRCh38
NC_000002.11:g.88874921A>G , CM000664.1:g.88874921A>G	GRCh37
NC_000002.10:g.88656036A>G	NCBI36
NG_016424.1:g.57174T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1908T>C
ENST00000682276.1:n.1525T>C
ENST00000682892.1:c.1627T>C	ENSP00000507214.1:p.Ser543Pro
ENST00000682952.1:n.1719T>C
ENST00000684455.1:c.1293T>C
ENST00000684642.1:c.1477T>C	ENSP00000507355.1:p.Ser493Pro
ENST00000684740.1:n.2258T>C
ENST00000303236.9:c.2080T>C MANE Select	ENSP00000307235.3:p.Ser694Pro
ENST00000652099.1:c.2274T>C
ENST00000652736.1:n.1956T>C
ENST00000303236.7:c.2080T>C	ENSP00000307235.3:p.Ser694Pro
ENST00000415570.1:c.1717T>C	ENSP00000412076.1:p.Ser573Pro
ENST00000419748.5:c.1627T>C	ENSP00000408325.1:p.Ser543Pro
ENST00000470706.1:n.6T>C
ENST00000478003.1:n.646T>C
NM_001313915.1:c.1627T>C	NP_001300844.1:p.Ser543Pro
NM_004836.5:c.2080T>C	NP_004827.4:p.Ser694Pro
NM_004836.6:c.2080T>C	NP_004827.4:p.Ser694Pro
NR_110236.1:n.1540A>G
XM_005264649.3:c.1396T>C	XP_005264706.1:p.Ser466Pro
XR_939749.1:n.2359T>C
XM_017005376.2:c.1396T>C	XP_016860865.1:p.Ser466Pro
NM_004836.7:c.2080T>C MANE Select	NP_004827.4:p.Ser694Pro
NM_001313915.2:c.1627T>C	NP_001300844.1:p.Ser543Pro