Canonical Allele Identifier: CA347592158

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874734T>G (hg19) ; chr2:g.88575216T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575216T>G , CM000664.2:g.88575216T>G	GRCh38
NC_000002.11:g.88874734T>G , CM000664.1:g.88874734T>G	GRCh37
NC_000002.10:g.88655849T>G	NCBI36
NG_016424.1:g.57361A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2095A>C
ENST00000682276.1:n.1712A>C
ENST00000682892.1:c.1814A>C	ENSP00000507214.1:p.Asp605Ala
ENST00000682952.1:n.1906A>C
ENST00000684455.1:c.1480A>C
ENST00000684642.1:c.1664A>C	ENSP00000507355.1:p.Asp555Ala
ENST00000684740.1:n.2445A>C
ENST00000303236.9:c.2267A>C MANE Select	ENSP00000307235.3:p.Asp756Ala
ENST00000652099.1:c.2461A>C
ENST00000652736.1:n.2143A>C
ENST00000303236.7:c.2267A>C	ENSP00000307235.3:p.Asp756Ala
ENST00000415570.1:c.1904A>C	ENSP00000412076.1:p.Asp635Ala
ENST00000419748.5:c.1814A>C	ENSP00000408325.1:p.Asp605Ala
ENST00000470706.1:n.49-139A>C
NM_001313915.1:c.1814A>C	NP_001300844.1:p.Asp605Ala
NM_004836.5:c.2267A>C	NP_004827.4:p.Asp756Ala
NM_004836.6:c.2267A>C	NP_004827.4:p.Asp756Ala
NR_110236.1:n.1353T>G
XM_005264649.3:c.1583A>C	XP_005264706.1:p.Asp528Ala
XM_017005376.2:c.1583A>C	XP_016860865.1:p.Asp528Ala
NM_004836.7:c.2267A>C MANE Select	NP_004827.4:p.Asp756Ala
NM_001313915.2:c.1814A>C	NP_001300844.1:p.Asp605Ala