Canonical Allele Identifier: CA347593934

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88579642T>C , CM000664.2:g.88579642T>C	GRCh38
NC_000002.11:g.88879160T>C , CM000664.1:g.88879160T>C	GRCh37
NC_000002.10:g.88660275T>C	NCBI36
NG_016424.1:g.52935A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.1764-2A>G MANE Select	NP_004827.4:n.1764-2A>G
ENST00000303236.9:c.1764-2A>G MANE Select	ENSP00000307235.3:n.1764-2A>G
NM_001313915.1:c.1311-2A>G	NP_001300844.1:n.1311-2A>G
NM_001313915.2:c.1311-2A>G	NP_001300844.1:n.1311-2A>G
NM_004836.5:c.1764-2A>G	NP_004827.4:n.1764-2A>G
NM_004836.6:c.1764-2A>G	NP_004827.4:n.1764-2A>G
ENST00000303236.7:c.1764-2A>G	ENSP00000307235.3:n.1764-2A>G
ENST00000415570.1:c.1401-2A>G	ENSP00000412076.1:n.1401-2A>G
ENST00000419748.5:c.1311-2A>G	ENSP00000408325.1:n.1311-2A>G
ENST00000478003.1:n.328A>G
ENST00000478003.2:n.1590A>G
ENST00000652099.1:c.1958-2A>G
ENST00000652736.1:n.1640-2A>G
ENST00000682276.1:n.1209-2A>G
ENST00000682892.1:c.1311-2A>G	ENSP00000507214.1:n.1311-2A>G
ENST00000682952.1:n.1403-2A>G
ENST00000684455.1:c.977-2A>G
ENST00000684642.1:c.1161-2A>G	ENSP00000507355.1:n.1161-2A>G
ENST00000684740.1:n.1940A>G
XM_005264649.3:c.1080-2A>G	XP_005264706.1:n.1080-2A>G
XM_017005376.2:c.1080-2A>G	XP_016860865.1:n.1080-2A>G
XR_939749.1:n.2043-2A>G