Canonical Allele Identifier: CA347591719

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575118-G-A
• MyVariant Identifiers: chr2:g.88874636G>A (hg19) ; chr2:g.88575118G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575118G>A , CM000664.2:g.88575118G>A	GRCh38
NC_000002.11:g.88874636G>A , CM000664.1:g.88874636G>A	GRCh37
NC_000002.10:g.88655751G>A	NCBI36
NG_016424.1:g.57459C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2193C>T
ENST00000682276.1:n.1810C>T
ENST00000682892.1:c.1912C>T	ENSP00000507214.1:p.Pro638Ser
ENST00000682952.1:n.2004C>T
ENST00000684455.1:c.1578C>T
ENST00000684642.1:c.1762C>T	ENSP00000507355.1:p.Pro588Ser
ENST00000684740.1:n.2543C>T
ENST00000303236.9:c.2365C>T MANE Select	ENSP00000307235.3:p.Pro789Ser
ENST00000652099.1:c.2559C>T
ENST00000652736.1:n.2241C>T
ENST00000303236.7:c.2365C>T	ENSP00000307235.3:p.Pro789Ser
ENST00000415570.1:c.2002C>T	ENSP00000412076.1:p.Pro668Ser
ENST00000419748.5:c.1912C>T	ENSP00000408325.1:p.Pro638Ser
ENST00000470706.1:n.49-41C>T
NM_001313915.1:c.1912C>T	NP_001300844.1:p.Pro638Ser
NM_004836.5:c.2365C>T	NP_004827.4:p.Pro789Ser
NM_004836.6:c.2365C>T	NP_004827.4:p.Pro789Ser
NR_110236.1:n.1255G>A
XM_005264649.3:c.1681C>T	XP_005264706.1:p.Pro561Ser
XM_017005376.2:c.1681C>T	XP_016860865.1:p.Pro561Ser
NM_004836.7:c.2365C>T MANE Select	NP_004827.4:p.Pro789Ser
NM_001313915.2:c.1912C>T	NP_001300844.1:p.Pro638Ser