Canonical Allele Identifier: CA1754457

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 1665751
• ClinVar RCV Id: RCV002203272
• dbSNP Id: rs140169510
• ExAC: 2:88874616 A / G
• gnomAD v2: 2-88874616-A-G
• gnomAD v3: 2-88575098-A-G
• gnomAD v4: 2-88575098-A-G
• MyVariant Identifiers: chr2:g.88874616A>G (hg19) ; chr2:g.88575098A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575098A>G , CM000664.2:g.88575098A>G	GRCh38
NC_000002.11:g.88874616A>G , CM000664.1:g.88874616A>G	GRCh37
NC_000002.10:g.88655731A>G	NCBI36
NG_016424.1:g.57479T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2213T>C
ENST00000682276.1:n.1830T>C
ENST00000682892.1:c.1932T>C	ENSP00000507214.1:p.Tyr644=
ENST00000682952.1:n.2024T>C
ENST00000684455.1:c.1598T>C
ENST00000684642.1:c.1782T>C	ENSP00000507355.1:p.Tyr594=
ENST00000684740.1:n.2563T>C
ENST00000303236.9:c.2385T>C MANE Select	ENSP00000307235.3:p.Tyr795=
ENST00000652099.1:c.2579T>C
ENST00000652736.1:n.2261T>C
ENST00000303236.7:c.2385T>C	ENSP00000307235.3:p.Tyr795=
ENST00000415570.1:c.2022T>C	ENSP00000412076.1:p.Tyr674=
ENST00000419748.5:c.1932T>C	ENSP00000408325.1:p.Tyr644=
ENST00000470706.1:n.49-21T>C
NM_001313915.1:c.1932T>C	NP_001300844.1:p.Tyr644=
NM_004836.5:c.2385T>C	NP_004827.4:p.Tyr795=
NM_004836.6:c.2385T>C	NP_004827.4:p.Tyr795=
NR_110236.1:n.1235A>G
XM_005264649.3:c.1701T>C	XP_005264706.1:p.Tyr567=
XM_017005376.2:c.1701T>C	XP_016860865.1:p.Tyr567=
NM_004836.7:c.2385T>C MANE Select	NP_004827.4:p.Tyr795=
NM_001313915.2:c.1932T>C	NP_001300844.1:p.Tyr644=