Canonical Allele Identifier: CA347591931

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575169-C-G
• MyVariant Identifiers: chr2:g.88874687C>G (hg19) ; chr2:g.88575169C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575169C>G , CM000664.2:g.88575169C>G	GRCh38
NC_000002.11:g.88874687C>G , CM000664.1:g.88874687C>G	GRCh37
NC_000002.10:g.88655802C>G	NCBI36
NG_016424.1:g.57408G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2142G>C
ENST00000682276.1:n.1759G>C
ENST00000682892.1:c.1861G>C	ENSP00000507214.1:p.Glu621Gln
ENST00000682952.1:n.1953G>C
ENST00000684455.1:c.1527G>C
ENST00000684642.1:c.1711G>C	ENSP00000507355.1:p.Glu571Gln
ENST00000684740.1:n.2492G>C
ENST00000303236.9:c.2314G>C MANE Select	ENSP00000307235.3:p.Glu772Gln
ENST00000652099.1:c.2508G>C
ENST00000652736.1:n.2190G>C
ENST00000303236.7:c.2314G>C	ENSP00000307235.3:p.Glu772Gln
ENST00000415570.1:c.1951G>C	ENSP00000412076.1:p.Glu651Gln
ENST00000419748.5:c.1861G>C	ENSP00000408325.1:p.Glu621Gln
ENST00000470706.1:n.49-92G>C
NM_001313915.1:c.1861G>C	NP_001300844.1:p.Glu621Gln
NM_004836.5:c.2314G>C	NP_004827.4:p.Glu772Gln
NM_004836.6:c.2314G>C	NP_004827.4:p.Glu772Gln
NR_110236.1:n.1306C>G
XM_005264649.3:c.1630G>C	XP_005264706.1:p.Glu544Gln
XM_017005376.2:c.1630G>C	XP_016860865.1:p.Glu544Gln
NM_004836.7:c.2314G>C MANE Select	NP_004827.4:p.Glu772Gln
NM_001313915.2:c.1861G>C	NP_001300844.1:p.Glu621Gln