Canonical Allele Identifier: CA425409832

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs1283792648
• gnomAD v2: 2-27587582-T-TA
• gnomAD v3: 2-27364715-T-TA
• gnomAD v4: 2-27364715-T-TA
• MyVariant Identifiers: chr2:g.27587583dup (hg19) ; chr2:g.27587582_27587583insA (hg19) ; chr2:g.27364715_27364716insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364716dup , CM000664.2:g.27364716dup	GRCh38
NC_000002.11:g.27587583dup , CM000664.1:g.27587583dup	GRCh37
NC_000002.10:g.27441087dup	NCBI36
NG_009305.1:g.10742dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1372+2dup (EIF2B4) MANE Select	ENSP00000233552.6:n.1372+2dup
ENST00000347454.8:c.1372+2dup (EIF2B4)	ENSP00000233552.5:n.1372+2dup
ENST00000405940.6:c.*638+2dup (EIF2B4)	ENSP00000384375.2:n.*638+2dup
ENST00000445933.6:c.1369+2dup (EIF2B4)	ENSP00000394397.2:n.1369+2dup
ENST00000451130.6:c.1432+2dup (EIF2B4)	ENSP00000394869.2:n.1432+2dup
ENST00000478311.1:n.365+2dup (EIF2B4)
ENST00000493344.6:c.1435+2dup (EIF2B4)	ENSP00000429323.1:n.1435+2dup
ENST00000616081.4:c.1363+2dup (EIF2B4)	ENSP00000477710.1:n.1363+2dup
ENST00000622434.4:c.*638+2dup (EIF2B4)	ENSP00000479991.1:n.*638+2dup
NM_001034116.1:c.1372+2dup (EIF2B4)	NP_001029288.1:n.1372+2dup
NM_015636.3:c.1369+2dup (EIF2B4)	NP_056451.3:n.1369+2dup
NM_172195.3:c.1432+2dup (EIF2B4)	NP_751945.2:n.1432+2dup
XM_005264632.1:c.1327+2dup (EIF2B4)	XP_005264689.1:n.1327+2dup
XM_006712132.1:c.1324+2dup (EIF2B4)	XP_006712195.1:n.1324+2dup
XM_011533147.1:c.754+2dup (EIF2B4)	XP_011531449.1:n.754+2dup
XR_939868.1:n.1772-2708dup (GTF3C2-AS2)
NM_001318965.1:c.1435+2dup (EIF2B4)	NP_001305894.1:n.1435+2dup
NM_001318966.1:c.1327+2dup (EIF2B4)	NP_001305895.1:n.1327+2dup
NM_001318967.1:c.1279+2dup (EIF2B4)	NP_001305896.1:n.1279+2dup
NM_001318968.1:c.787+2dup (EIF2B4)	NP_001305897.1:n.787+2dup
NM_001318969.1:c.754+2dup (EIF2B4)	NP_001305898.1:n.754+2dup
XM_011533147.2:c.754+2dup (EIF2B4)	XP_011531449.1:n.754+2dup
NM_001034116.2:c.1372+2dup (EIF2B4) MANE Select	NP_001029288.1:n.1372+2dup
NM_001318965.2:c.1435+2dup (EIF2B4)	NP_001305894.1:n.1435+2dup
NM_001318966.2:c.1327+2dup (EIF2B4)	NP_001305895.1:n.1327+2dup
NM_001318967.2:c.1279+2dup (EIF2B4)	NP_001305896.1:n.1279+2dup
NM_001318968.2:c.787+2dup (EIF2B4)	NP_001305897.1:n.787+2dup
NM_001318969.2:c.754+2dup (EIF2B4)	NP_001305898.1:n.754+2dup
NM_015636.4:c.1369+2dup (EIF2B4)	NP_056451.3:n.1369+2dup
NM_172195.4:c.1432+2dup (EIF2B4)	NP_751945.2:n.1432+2dup