Canonical Allele Identifier: CA1576808

Gene: EIF2B4

Linked Data

• dbSNP Id: rs764109646
• ExAC: 2:27590720 AC / A
• gnomAD v2: 2-27590720-AC-A
• gnomAD v3: 2-27367853-AC-A
• gnomAD v4: 2-27367853-AC-A
• MyVariant Identifiers: chr2:g.27590721del (hg19) ; chr2:g.27367854del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367857del , CM000664.2:g.27367857del	GRCh38
NC_000002.11:g.27590724del , CM000664.1:g.27590724del	GRCh37
NC_000002.10:g.27444228del	NCBI36
NG_009305.1:g.7604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.706-32del MANE Select	ENSP00000233552.6:n.706-32del
ENST00000347454.8:c.706-32del	ENSP00000233552.5:n.706-32del
ENST00000405940.6:c.680-32del	ENSP00000384375.2:n.680-32del
ENST00000417567.1:c.282-32del
ENST00000445933.6:c.703-32del	ENSP00000394397.2:n.703-32del
ENST00000451130.6:c.766-32del	ENSP00000394869.2:n.766-32del
ENST00000475582.5:n.1997del
ENST00000493344.6:c.769-32del	ENSP00000429323.1:n.769-32del
ENST00000616081.4:c.697-32del	ENSP00000477710.1:n.697-32del
ENST00000622434.4:c.661-32del	ENSP00000479991.1:n.661-32del
NM_001034116.1:c.706-32del	NP_001029288.1:n.706-32del
NM_015636.3:c.703-32del	NP_056451.3:n.703-32del
NM_172195.3:c.766-32del	NP_751945.2:n.766-32del
XM_005264632.1:c.661-32del	XP_005264689.1:n.661-32del
XM_006712132.1:c.658-32del	XP_006712195.1:n.658-32del
XM_011533147.1:c.88-32del	XP_011531449.1:n.88-32del
NM_001318965.1:c.769-32del	NP_001305894.1:n.769-32del
NM_001318966.1:c.661-32del	NP_001305895.1:n.661-32del
NM_001318967.1:c.613-32del	NP_001305896.1:n.613-32del
NM_001318968.1:c.121-32del	NP_001305897.1:n.121-32del
NM_001318969.1:c.88-32del	NP_001305898.1:n.88-32del
XM_011533147.2:c.88-32del	XP_011531449.1:n.88-32del
NM_001034116.2:c.706-32del MANE Select	NP_001029288.1:n.706-32del
NM_001318965.2:c.769-32del	NP_001305894.1:n.769-32del
NM_001318966.2:c.661-32del	NP_001305895.1:n.661-32del
NM_001318967.2:c.613-32del	NP_001305896.1:n.613-32del
NM_001318968.2:c.121-32del	NP_001305897.1:n.121-32del
NM_001318969.2:c.88-32del	NP_001305898.1:n.88-32del
NM_015636.4:c.703-32del	NP_056451.3:n.703-32del
NM_172195.4:c.766-32del	NP_751945.2:n.766-32del