Canonical Allele Identifier: CA347591728

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575120-C-G
• MyVariant Identifiers: chr2:g.88874638C>G (hg19) ; chr2:g.88575120C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575120C>G , CM000664.2:g.88575120C>G	GRCh38
NC_000002.11:g.88874638C>G , CM000664.1:g.88874638C>G	GRCh37
NC_000002.10:g.88655753C>G	NCBI36
NG_016424.1:g.57457G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2191G>C
ENST00000682276.1:n.1808G>C
ENST00000682892.1:c.1910G>C	ENSP00000507214.1:p.Cys637Ser
ENST00000682952.1:n.2002G>C
ENST00000684455.1:c.1576G>C
ENST00000684642.1:c.1760G>C	ENSP00000507355.1:p.Cys587Ser
ENST00000684740.1:n.2541G>C
ENST00000303236.9:c.2363G>C MANE Select	ENSP00000307235.3:p.Cys788Ser
ENST00000652099.1:c.2557G>C
ENST00000652736.1:n.2239G>C
ENST00000303236.7:c.2363G>C	ENSP00000307235.3:p.Cys788Ser
ENST00000415570.1:c.2000G>C	ENSP00000412076.1:p.Cys667Ser
ENST00000419748.5:c.1910G>C	ENSP00000408325.1:p.Cys637Ser
ENST00000470706.1:n.49-43G>C
NM_001313915.1:c.1910G>C	NP_001300844.1:p.Cys637Ser
NM_004836.5:c.2363G>C	NP_004827.4:p.Cys788Ser
NM_004836.6:c.2363G>C	NP_004827.4:p.Cys788Ser
NR_110236.1:n.1257C>G
XM_005264649.3:c.1679G>C	XP_005264706.1:p.Cys560Ser
XM_017005376.2:c.1679G>C	XP_016860865.1:p.Cys560Ser
NM_004836.7:c.2363G>C MANE Select	NP_004827.4:p.Cys788Ser
NM_001313915.2:c.1910G>C	NP_001300844.1:p.Cys637Ser