Canonical Allele Identifier: CA347592916

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874900C>G (hg19) ; chr2:g.88575382C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575382C>G , CM000664.2:g.88575382C>G	GRCh38
NC_000002.11:g.88874900C>G , CM000664.1:g.88874900C>G	GRCh37
NC_000002.10:g.88656015C>G	NCBI36
NG_016424.1:g.57195G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1929G>C
ENST00000682276.1:n.1546G>C
ENST00000682892.1:c.1648G>C	ENSP00000507214.1:p.Asp550His
ENST00000682952.1:n.1740G>C
ENST00000684455.1:c.1314G>C
ENST00000684642.1:c.1498G>C	ENSP00000507355.1:p.Asp500His
ENST00000684740.1:n.2279G>C
ENST00000303236.9:c.2101G>C MANE Select	ENSP00000307235.3:p.Asp701His
ENST00000652099.1:c.2295G>C
ENST00000652736.1:n.1977G>C
ENST00000303236.7:c.2101G>C	ENSP00000307235.3:p.Asp701His
ENST00000415570.1:c.1738G>C	ENSP00000412076.1:p.Asp580His
ENST00000419748.5:c.1648G>C	ENSP00000408325.1:p.Asp550His
ENST00000470706.1:n.27G>C
NM_001313915.1:c.1648G>C	NP_001300844.1:p.Asp550His
NM_004836.5:c.2101G>C	NP_004827.4:p.Asp701His
NM_004836.6:c.2101G>C	NP_004827.4:p.Asp701His
NR_110236.1:n.1519C>G
XM_005264649.3:c.1417G>C	XP_005264706.1:p.Asp473His
XR_939749.1:n.2380G>C
XM_017005376.2:c.1417G>C	XP_016860865.1:p.Asp473His
NM_004836.7:c.2101G>C MANE Select	NP_004827.4:p.Asp701His
NM_001313915.2:c.1648G>C	NP_001300844.1:p.Asp550His