Canonical Allele Identifier: CA347591268

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874537G>C (hg19) ; chr2:g.88575019G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575019G>C , CM000664.2:g.88575019G>C	GRCh38
NC_000002.11:g.88874537G>C , CM000664.1:g.88874537G>C	GRCh37
NC_000002.10:g.88655652G>C	NCBI36
NG_016424.1:g.57558C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2292C>G
ENST00000682103.1:c.5C>G
ENST00000682276.1:n.1909C>G
ENST00000682892.1:c.2011C>G	ENSP00000507214.1:p.Pro671Ala
ENST00000682952.1:n.2103C>G
ENST00000684455.1:c.1677C>G
ENST00000684642.1:c.1861C>G	ENSP00000507355.1:p.Pro621Ala
ENST00000684740.1:n.2642C>G
ENST00000303236.9:c.2464C>G MANE Select	ENSP00000307235.3:p.Pro822Ala
ENST00000652099.1:c.2658C>G
ENST00000652736.1:n.2340C>G
ENST00000303236.7:c.2464C>G	ENSP00000307235.3:p.Pro822Ala
ENST00000415570.1:c.2101C>G	ENSP00000412076.1:p.Pro701Ala
ENST00000419748.5:c.2011C>G	ENSP00000408325.1:p.Pro671Ala
ENST00000470706.1:n.107C>G
NM_001313915.1:c.2011C>G	NP_001300844.1:p.Pro671Ala
NM_004836.5:c.2464C>G	NP_004827.4:p.Pro822Ala
NM_004836.6:c.2464C>G	NP_004827.4:p.Pro822Ala
NR_110236.1:n.1156G>C
XM_005264649.3:c.1780C>G	XP_005264706.1:p.Pro594Ala
XM_017005376.2:c.1780C>G	XP_016860865.1:p.Pro594Ala
NM_004836.7:c.2464C>G MANE Select	NP_004827.4:p.Pro822Ala
NM_001313915.2:c.2011C>G	NP_001300844.1:p.Pro671Ala