Canonical Allele Identifier: CA1754528

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs755363429
• ExAC: 2:88875016 G / C
• gnomAD v2: 2-88875016-G-C
• gnomAD v4: 2-88575498-G-C
• MyVariant Identifiers: chr2:g.88875016G>C (hg19) ; chr2:g.88575498G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575498G>C , CM000664.2:g.88575498G>C	GRCh38
NC_000002.11:g.88875016G>C , CM000664.1:g.88875016G>C	GRCh37
NC_000002.10:g.88656131G>C	NCBI36
NG_016424.1:g.57079C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1865-52C>G
ENST00000682276.1:n.1482-52C>G
ENST00000682892.1:c.1584-52C>G	ENSP00000507214.1:n.1584-52C>G
ENST00000682952.1:n.1676-52C>G
ENST00000684455.1:c.1250-52C>G
ENST00000684642.1:c.1434-52C>G	ENSP00000507355.1:n.1434-52C>G
ENST00000684740.1:n.2215-52C>G
ENST00000303236.9:c.2037-52C>G MANE Select	ENSP00000307235.3:n.2037-52C>G
ENST00000652099.1:c.2231-52C>G
ENST00000652736.1:n.1913-52C>G
ENST00000303236.7:c.2037-52C>G	ENSP00000307235.3:n.2037-52C>G
ENST00000415570.1:c.1674-52C>G	ENSP00000412076.1:n.1674-52C>G
ENST00000419748.5:c.1584-52C>G	ENSP00000408325.1:n.1584-52C>G
ENST00000478003.1:n.603-52C>G
NM_001313915.1:c.1584-52C>G	NP_001300844.1:n.1584-52C>G
NM_004836.5:c.2037-52C>G	NP_004827.4:n.2037-52C>G
NM_004836.6:c.2037-52C>G	NP_004827.4:n.2037-52C>G
NR_110236.1:n.1635G>C
XM_005264649.3:c.1353-52C>G	XP_005264706.1:n.1353-52C>G
XR_939749.1:n.2316-52C>G
XM_017005376.2:c.1353-52C>G	XP_016860865.1:n.1353-52C>G
NM_004836.7:c.2037-52C>G MANE Select	NP_004827.4:n.2037-52C>G
NM_001313915.2:c.1584-52C>G	NP_001300844.1:n.1584-52C>G