Canonical Allele Identifier: CA347593650

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88579516A>G , CM000664.2:g.88579516A>G	GRCh38
NC_000002.11:g.88879034A>G , CM000664.1:g.88879034A>G	GRCh37
NC_000002.10:g.88660149A>G	NCBI36
NG_016424.1:g.53061T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.1886+2T>C MANE Select	NP_004827.4:n.1886+2T>C
ENST00000303236.9:c.1886+2T>C MANE Select	ENSP00000307235.3:n.1886+2T>C
NM_001313915.1:c.1433+2T>C	NP_001300844.1:n.1433+2T>C
NM_001313915.2:c.1433+2T>C	NP_001300844.1:n.1433+2T>C
NM_004836.5:c.1886+2T>C	NP_004827.4:n.1886+2T>C
NM_004836.6:c.1886+2T>C	NP_004827.4:n.1886+2T>C
ENST00000303236.7:c.1886+2T>C	ENSP00000307235.3:n.1886+2T>C
ENST00000415570.1:c.1523+2T>C	ENSP00000412076.1:n.1523+2T>C
ENST00000419748.5:c.1433+2T>C	ENSP00000408325.1:n.1433+2T>C
ENST00000478003.1:n.452+2T>C
ENST00000478003.2:n.1714+2T>C
ENST00000652099.1:c.2080+2T>C
ENST00000652736.1:n.1762+2T>C
ENST00000682276.1:n.1331+2T>C
ENST00000682892.1:c.1433+2T>C	ENSP00000507214.1:n.1433+2T>C
ENST00000682952.1:n.1525+2T>C
ENST00000684455.1:c.1099+2T>C
ENST00000684642.1:c.1283+2T>C	ENSP00000507355.1:n.1283+2T>C
ENST00000684740.1:n.2064+2T>C
XM_005264649.3:c.1202+2T>C	XP_005264706.1:n.1202+2T>C
XM_017005376.2:c.1202+2T>C	XP_016860865.1:n.1202+2T>C
XR_939749.1:n.2165+2T>C