Canonical Allele Identifier: CA347592958

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874923G>A (hg19) ; chr2:g.88575405G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575405G>A , CM000664.2:g.88575405G>A	GRCh38
NC_000002.11:g.88874923G>A , CM000664.1:g.88874923G>A	GRCh37
NC_000002.10:g.88656038G>A	NCBI36
NG_016424.1:g.57172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1906C>T
ENST00000682276.1:n.1523C>T
ENST00000682892.1:c.1625C>T	ENSP00000507214.1:p.Pro542Leu
ENST00000682952.1:n.1717C>T
ENST00000684455.1:c.1291C>T
ENST00000684642.1:c.1475C>T	ENSP00000507355.1:p.Pro492Leu
ENST00000684740.1:n.2256C>T
ENST00000303236.9:c.2078C>T MANE Select	ENSP00000307235.3:p.Pro693Leu
ENST00000652099.1:c.2272C>T
ENST00000652736.1:n.1954C>T
ENST00000303236.7:c.2078C>T	ENSP00000307235.3:p.Pro693Leu
ENST00000415570.1:c.1715C>T	ENSP00000412076.1:p.Pro572Leu
ENST00000419748.5:c.1625C>T	ENSP00000408325.1:p.Pro542Leu
ENST00000470706.1:n.4C>T
ENST00000478003.1:n.644C>T
NM_001313915.1:c.1625C>T	NP_001300844.1:p.Pro542Leu
NM_004836.5:c.2078C>T	NP_004827.4:p.Pro693Leu
NM_004836.6:c.2078C>T	NP_004827.4:p.Pro693Leu
NR_110236.1:n.1542G>A
XM_005264649.3:c.1394C>T	XP_005264706.1:p.Pro465Leu
XR_939749.1:n.2357C>T
XM_017005376.2:c.1394C>T	XP_016860865.1:p.Pro465Leu
NM_004836.7:c.2078C>T MANE Select	NP_004827.4:p.Pro693Leu
NM_001313915.2:c.1625C>T	NP_001300844.1:p.Pro542Leu