Canonical Allele Identifier: CA2650531912

Gene: TGFB2

Linked Data

• gnomAD v4: 1-218437476-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218437477dup , CM000663.2:g.218437477dup	GRCh38
NC_000001.10:g.218610819dup , CM000663.1:g.218610819dup	GRCh37
NC_000001.9:g.216677442dup	NCBI36
NG_027721.1:g.97144dup
NG_027721.2:g.97144dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.1067dup MANE Select	ENSP00000355897.4:p.Asp357ArgfsTer12
ENST00000366929.4:c.1151dup	ENSP00000355896.4:p.Asp385ArgfsTer12
ENST00000366930.8:c.1067dup	ENSP00000355897.4:p.Asp357ArgfsTer12
ENST00000479322.1:n.551dup
NM_001135599.2:c.1151dup	NP_001129071.1:p.Asp385ArgfsTer12
NM_003238.3:c.1067dup	NP_003229.1:p.Asp357ArgfsTer12
NM_001135599.3:c.1151dup	NP_001129071.1:p.Asp385ArgfsTer12
NM_003238.4:c.1067dup	NP_003229.1:p.Asp357ArgfsTer12
NR_138148.1:n.2370dup
NR_138149.1:n.2454dup
NM_003238.5:c.1067dup	NP_003229.1:p.Asp357ArgfsTer12
NM_003238.6:c.1067dup MANE Select	NP_003229.1:p.Asp357ArgfsTer12
NM_001135599.4:c.1151dup	NP_001129071.1:p.Asp385ArgfsTer12
NR_138148.2:n.2318dup
NR_138149.2:n.2402dup