Canonical Allele Identifier: CA347591364

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874558T>C (hg19) ; chr2:g.88575040T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575040T>C , CM000664.2:g.88575040T>C	GRCh38
NC_000002.11:g.88874558T>C , CM000664.1:g.88874558T>C	GRCh37
NC_000002.10:g.88655673T>C	NCBI36
NG_016424.1:g.57537A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2271A>G
ENST00000682276.1:n.1888A>G
ENST00000682892.1:c.1990A>G	ENSP00000507214.1:p.Asn664Asp
ENST00000682952.1:n.2082A>G
ENST00000684455.1:c.1656A>G
ENST00000684642.1:c.1840A>G	ENSP00000507355.1:p.Asn614Asp
ENST00000684740.1:n.2621A>G
ENST00000303236.9:c.2443A>G MANE Select	ENSP00000307235.3:p.Asn815Asp
ENST00000652099.1:c.2637A>G
ENST00000652736.1:n.2319A>G
ENST00000303236.7:c.2443A>G	ENSP00000307235.3:p.Asn815Asp
ENST00000415570.1:c.2080A>G	ENSP00000412076.1:p.Asn694Asp
ENST00000419748.5:c.1990A>G	ENSP00000408325.1:p.Asn664Asp
ENST00000470706.1:n.86A>G
NM_001313915.1:c.1990A>G	NP_001300844.1:p.Asn664Asp
NM_004836.5:c.2443A>G	NP_004827.4:p.Asn815Asp
NM_004836.6:c.2443A>G	NP_004827.4:p.Asn815Asp
NR_110236.1:n.1177T>C
XM_005264649.3:c.1759A>G	XP_005264706.1:p.Asn587Asp
XM_017005376.2:c.1759A>G	XP_016860865.1:p.Asn587Asp
NM_004836.7:c.2443A>G MANE Select	NP_004827.4:p.Asn815Asp
NM_001313915.2:c.1990A>G	NP_001300844.1:p.Asn664Asp