Canonical Allele Identifier: CA37625832

Gene: TGFB2

Linked Data

• dbSNP Id: rs1021
• gnomAD v4: 1-218441556-C-A
• MyVariant Identifiers: chr1:g.218614898C>A (hg19) ; chr1:g.218441556C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441556C>A , CM000663.2:g.218441556C>A	GRCh38
NC_000001.10:g.218614898C>A , CM000663.1:g.218614898C>A	GRCh37
NC_000001.9:g.216681521C>A	NCBI36
NG_027721.1:g.101223C>A
NG_027721.2:g.101223C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.*194C>A MANE Select	ENSP00000355897.4:n.*194C>A
ENST00000366929.4:c.*194C>A	ENSP00000355896.4:n.*194C>A
ENST00000366930.8:c.*194C>A	ENSP00000355897.4:n.*194C>A
ENST00000479322.1:n.923C>A
NM_001135599.2:c.*194C>A	NP_001129071.1:n.*194C>A
NM_003238.3:c.*194C>A	NP_003229.1:n.*194C>A
NM_001135599.3:c.*194C>A	NP_001129071.1:n.*194C>A
NM_003238.4:c.*194C>A	NP_003229.1:n.*194C>A
NR_138148.1:n.2742C>A
NR_138149.1:n.2826C>A
NM_003238.5:c.*194C>A	NP_003229.1:n.*194C>A
NM_003238.6:c.*194C>A MANE Select	NP_003229.1:n.*194C>A
NM_001135599.4:c.*194C>A	NP_001129071.1:n.*194C>A
NR_138148.2:n.2690C>A
NR_138149.2:n.2774C>A