Canonical Allele Identifier: CA347595717

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590816A>G , CM000664.2:g.88590816A>G	GRCh38
NC_000002.11:g.88890334A>G , CM000664.1:g.88890334A>G	GRCh37
NC_000002.10:g.88671449A>G	NCBI36
NG_016424.1:g.41761T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.1002+2T>C MANE Select	NP_004827.4:n.1002+2T>C
ENST00000303236.9:c.1002+2T>C MANE Select	ENSP00000307235.3:n.1002+2T>C
NM_001313915.1:c.549+2T>C	NP_001300844.1:n.549+2T>C
NM_001313915.2:c.549+2T>C	NP_001300844.1:n.549+2T>C
NM_004836.5:c.1002+2T>C	NP_004827.4:n.1002+2T>C
NM_004836.6:c.1002+2T>C	NP_004827.4:n.1002+2T>C
ENST00000303236.7:c.1002+2T>C	ENSP00000307235.3:n.1002+2T>C
ENST00000415570.1:c.639+2T>C	ENSP00000412076.1:n.639+2T>C
ENST00000419748.5:c.549+2T>C	ENSP00000408325.1:n.549+2T>C
ENST00000652099.1:c.1196+2T>C
ENST00000652736.1:n.878+2T>C
ENST00000681996.1:n.2193+2T>C
ENST00000682276.1:n.457+2T>C
ENST00000682892.1:c.549+2T>C	ENSP00000507214.1:n.549+2T>C
ENST00000682952.1:n.641+2T>C
ENST00000684455.1:c.215+2T>C
ENST00000684642.1:c.399+2T>C	ENSP00000507355.1:n.399+2T>C
XM_005264649.3:c.318+2T>C	XP_005264706.1:n.318+2T>C
XM_017005376.2:c.318+2T>C	XP_016860865.1:n.318+2T>C
XR_939749.1:n.1211+2T>C