Canonical Allele Identifier: CA532236261

Gene: EIF2AK2

Linked Data

• dbSNP Id: rs1364168683
• gnomAD v2: 2-37376536-GAC-G
• gnomAD v3: 2-37149393-GAC-G
• gnomAD v4: 2-37149393-GAC-G
• MyVariant Identifiers: chr2:g.37376537_37376538del (hg19) ; chr2:g.37149394_37149395del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.37149395_37149396del , CM000664.2:g.37149395_37149396del	GRCh38
NC_000002.11:g.37376538_37376539del , CM000664.1:g.37376538_37376539del	GRCh37
NC_000002.10:g.37230042_37230043del	NCBI36
NG_030351.1:g.12653_12654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233057.9:c.-183-372_-183-371del MANE Select	ENSP00000233057.4:n.-183-372_-183-371del
ENST00000411537.7:n.29-372_29-371del
ENST00000679507.1:c.-16-1573_-16-1572del	ENSP00000506024.1:n.-16-1573_-16-1572del
ENST00000679979.1:c.-183-372_-183-371del	ENSP00000506455.1:n.-183-372_-183-371del
ENST00000680273.1:c.-183-372_-183-371del	ENSP00000506203.1:n.-183-372_-183-371del
ENST00000681329.1:n.157-372_157-371del
ENST00000681463.1:c.-75-480_-75-479del	ENSP00000505138.1:n.-75-480_-75-479del
ENST00000681507.1:c.-99-456_-99-455del	ENSP00000505772.1:n.-99-456_-99-455del
ENST00000233057.8:c.-183-372_-183-371del	ENSP00000233057.4:n.-183-372_-183-371del
ENST00000390013.3:c.-99-456_-99-455del	ENSP00000374663.3:n.-99-456_-99-455del
ENST00000395127.6:c.-417-138_-417-137del	ENSP00000378559.2:n.-417-138_-417-137del
ENST00000411537.6:c.-75-480_-75-479del	ENSP00000393921.2:n.-75-480_-75-479del
NM_001135651.2:c.-183-372_-183-371del	NP_001129123.1:n.-183-372_-183-371del
NM_002759.3:c.-417-138_-417-137del	NP_002750.1:n.-417-138_-417-137del
XM_011532987.1:c.-99-456_-99-455del	XP_011531289.1:n.-99-456_-99-455del
XM_011532987.2:c.-99-456_-99-455del	XP_011531289.1:n.-99-456_-99-455del
XM_017004503.1:c.-183-372_-183-371del	XP_016859992.1:n.-183-372_-183-371del
NM_001135651.3:c.-183-372_-183-371del MANE Select	NP_001129123.1:n.-183-372_-183-371del
NM_002759.4:c.-417-138_-417-137del	NP_002750.1:n.-417-138_-417-137del