Canonical Allele Identifier: CA51486642

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs780592115
• gnomAD v4: 2-88575390-C-G
• MyVariant Identifiers: chr2:g.88874908C>G (hg19) ; chr2:g.88575390C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575390C>G , CM000664.2:g.88575390C>G	GRCh38
NC_000002.11:g.88874908C>G , CM000664.1:g.88874908C>G	GRCh37
NC_000002.10:g.88656023C>G	NCBI36
NG_016424.1:g.57187G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1921G>C
ENST00000682276.1:n.1538G>C
ENST00000682892.1:c.1640G>C	ENSP00000507214.1:p.Arg547Pro
ENST00000682952.1:n.1732G>C
ENST00000684455.1:c.1306G>C
ENST00000684642.1:c.1490G>C	ENSP00000507355.1:p.Arg497Pro
ENST00000684740.1:n.2271G>C
ENST00000303236.9:c.2093G>C MANE Select	ENSP00000307235.3:p.Arg698Pro
ENST00000652099.1:c.2287G>C
ENST00000652736.1:n.1969G>C
ENST00000303236.7:c.2093G>C	ENSP00000307235.3:p.Arg698Pro
ENST00000415570.1:c.1730G>C	ENSP00000412076.1:p.Arg577Pro
ENST00000419748.5:c.1640G>C	ENSP00000408325.1:p.Arg547Pro
ENST00000470706.1:n.19G>C
ENST00000478003.1:n.659G>C
NM_001313915.1:c.1640G>C	NP_001300844.1:p.Arg547Pro
NM_004836.5:c.2093G>C	NP_004827.4:p.Arg698Pro
NM_004836.6:c.2093G>C	NP_004827.4:p.Arg698Pro
NR_110236.1:n.1527C>G
XM_005264649.3:c.1409G>C	XP_005264706.1:p.Arg470Pro
XR_939749.1:n.2372G>C
XM_017005376.2:c.1409G>C	XP_016860865.1:p.Arg470Pro
NM_004836.7:c.2093G>C MANE Select	NP_004827.4:p.Arg698Pro
NM_001313915.2:c.1640G>C	NP_001300844.1:p.Arg547Pro