Canonical Allele Identifier: CA427173218

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874922T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575404T>G , CM000664.2:g.88575404T>G	GRCh38
NC_000002.11:g.88874922T>G , CM000664.1:g.88874922T>G	GRCh37
NC_000002.10:g.88656037T>G	NCBI36
NG_016424.1:g.57173A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1907A>C
ENST00000682276.1:n.1524A>C
ENST00000682892.1:c.1626A>C	ENSP00000507214.1:p.Pro542=
ENST00000682952.1:n.1718A>C
ENST00000684455.1:c.1292A>C
ENST00000684642.1:c.1476A>C	ENSP00000507355.1:p.Pro492=
ENST00000684740.1:n.2257A>C
ENST00000303236.9:c.2079A>C MANE Select	ENSP00000307235.3:p.Pro693=
ENST00000652099.1:c.2273A>C
ENST00000652736.1:n.1955A>C
ENST00000303236.7:c.2079A>C	ENSP00000307235.3:p.Pro693=
ENST00000415570.1:c.1716A>C	ENSP00000412076.1:p.Pro572=
ENST00000419748.5:c.1626A>C	ENSP00000408325.1:p.Pro542=
ENST00000470706.1:n.5A>C
ENST00000478003.1:n.645A>C
NM_001313915.1:c.1626A>C	NP_001300844.1:p.Pro542=
NM_004836.5:c.2079A>C	NP_004827.4:p.Pro693=
NM_004836.6:c.2079A>C	NP_004827.4:p.Pro693=
NR_110236.1:n.1541T>G
XM_005264649.3:c.1395A>C	XP_005264706.1:p.Pro465=
XR_939749.1:n.2358A>C
XM_017005376.2:c.1395A>C	XP_016860865.1:p.Pro465=
NM_004836.7:c.2079A>C MANE Select	NP_004827.4:p.Pro693=
NM_001313915.2:c.1626A>C	NP_001300844.1:p.Pro542=