Canonical Allele Identifier: CA347592300

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575243-T-G
• MyVariant Identifiers: chr2:g.88874761T>G (hg19) ; chr2:g.88575243T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575243T>G , CM000664.2:g.88575243T>G	GRCh38
NC_000002.11:g.88874761T>G , CM000664.1:g.88874761T>G	GRCh37
NC_000002.10:g.88655876T>G	NCBI36
NG_016424.1:g.57334A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2068A>C
ENST00000682276.1:n.1685A>C
ENST00000682892.1:c.1787A>C	ENSP00000507214.1:p.Asp596Ala
ENST00000682952.1:n.1879A>C
ENST00000684455.1:c.1453A>C
ENST00000684642.1:c.1637A>C	ENSP00000507355.1:p.Asp546Ala
ENST00000684740.1:n.2418A>C
ENST00000303236.9:c.2240A>C MANE Select	ENSP00000307235.3:p.Asp747Ala
ENST00000652099.1:c.2434A>C
ENST00000652736.1:n.2116A>C
ENST00000303236.7:c.2240A>C	ENSP00000307235.3:p.Asp747Ala
ENST00000415570.1:c.1877A>C	ENSP00000412076.1:p.Asp626Ala
ENST00000419748.5:c.1787A>C	ENSP00000408325.1:p.Asp596Ala
ENST00000470706.1:n.48+118A>C
NM_001313915.1:c.1787A>C	NP_001300844.1:p.Asp596Ala
NM_004836.5:c.2240A>C	NP_004827.4:p.Asp747Ala
NM_004836.6:c.2240A>C	NP_004827.4:p.Asp747Ala
NR_110236.1:n.1380T>G
XM_005264649.3:c.1556A>C	XP_005264706.1:p.Asp519Ala
XM_017005376.2:c.1556A>C	XP_016860865.1:p.Asp519Ala
NM_004836.7:c.2240A>C MANE Select	NP_004827.4:p.Asp747Ala
NM_001313915.2:c.1787A>C	NP_001300844.1:p.Asp596Ala