Canonical Allele Identifier: CA894279116

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1188952589
• gnomAD v3: 2-88583325-CTA-C
• gnomAD v4: 2-88583325-CTA-C
• MyVariant Identifiers: chr2:g.88882844_88882845del (hg19) ; chr2:g.88583326_88583327del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583327_88583328del , CM000664.2:g.88583327_88583328del	GRCh38
NC_000002.11:g.88882845_88882846del , CM000664.1:g.88882845_88882846del	GRCh37
NC_000002.10:g.88663960_88663961del	NCBI36
NG_016424.1:g.49250_49251del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1208+103_1208+104del
ENST00000682892.1:c.1310+103_1310+104del	ENSP00000507214.1:n.1310+103_1310+104del
ENST00000682952.1:n.1402+103_1402+104del
ENST00000684455.1:c.976+103_976+104del
ENST00000684642.1:c.1160+103_1160+104del	ENSP00000507355.1:n.1160+103_1160+104del
ENST00000303236.9:c.1763+103_1763+104del MANE Select	ENSP00000307235.3:n.1763+103_1763+104del
ENST00000652099.1:c.1957+103_1957+104del
ENST00000652736.1:n.1639+103_1639+104del
ENST00000303236.7:c.1763+103_1763+104del	ENSP00000307235.3:n.1763+103_1763+104del
ENST00000415570.1:c.1400+103_1400+104del	ENSP00000412076.1:n.1400+103_1400+104del
ENST00000419748.5:c.1310+103_1310+104del	ENSP00000408325.1:n.1310+103_1310+104del
NM_001313915.1:c.1310+103_1310+104del	NP_001300844.1:n.1310+103_1310+104del
NM_004836.5:c.1763+103_1763+104del	NP_004827.4:n.1763+103_1763+104del
NM_004836.6:c.1763+103_1763+104del	NP_004827.4:n.1763+103_1763+104del
XM_005264649.3:c.1079+103_1079+104del	XP_005264706.1:n.1079+103_1079+104del
XR_939749.1:n.1972+103_1972+104del
XM_017005376.2:c.1079+103_1079+104del	XP_016860865.1:n.1079+103_1079+104del
NM_004836.7:c.1763+103_1763+104del MANE Select	NP_004827.4:n.1763+103_1763+104del
NM_001313915.2:c.1310+103_1310+104del	NP_001300844.1:n.1310+103_1310+104del