Canonical Allele Identifier: CA731610186

Gene: TGFB2

Linked Data

• dbSNP Id: rs1435258473
• gnomAD v3: 1-218441543-C-CT
• gnomAD v4: 1-218441543-C-CT
• MyVariant Identifiers: chr1:g.218614885_218614886insT (hg19) ; chr1:g.218441543_218441544insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441544dup , CM000663.2:g.218441544dup	GRCh38
NC_000001.10:g.218614886dup , CM000663.1:g.218614886dup	GRCh37
NC_000001.9:g.216681509dup	NCBI36
NG_027721.1:g.101211dup
NG_027721.2:g.101211dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.*182dup MANE Select	ENSP00000355897.4:n.*182dup
ENST00000366929.4:c.*182dup	ENSP00000355896.4:n.*182dup
ENST00000366930.8:c.*182dup	ENSP00000355897.4:n.*182dup
ENST00000479322.1:n.911dup
NM_001135599.2:c.*182dup	NP_001129071.1:n.*182dup
NM_003238.3:c.*182dup	NP_003229.1:n.*182dup
NM_001135599.3:c.*182dup	NP_001129071.1:n.*182dup
NM_003238.4:c.*182dup	NP_003229.1:n.*182dup
NR_138148.1:n.2730dup
NR_138149.1:n.2814dup
NM_003238.5:c.*182dup	NP_003229.1:n.*182dup
NM_003238.6:c.*182dup MANE Select	NP_003229.1:n.*182dup
NM_001135599.4:c.*182dup	NP_001129071.1:n.*182dup
NR_138148.2:n.2678dup
NR_138149.2:n.2762dup