Canonical Allele Identifier: CA10609936

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 295497
• ClinVar RCV Id: RCV000403223
• dbSNP Id: rs61762489
• gnomAD v2: 1-218614839-G-A
• gnomAD v3: 1-218441497-G-A
• gnomAD v4: 1-218441497-G-A
• MyVariant Identifiers: chr1:g.218614839G>A (hg19) ; chr1:g.218441497G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441497G>A , CM000663.2:g.218441497G>A	GRCh38
NC_000001.10:g.218614839G>A , CM000663.1:g.218614839G>A	GRCh37
NC_000001.9:g.216681462G>A	NCBI36
NG_027721.1:g.101164G>A
NG_027721.2:g.101164G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.*135G>A MANE Select	ENSP00000355897.4:n.*135G>A
ENST00000366929.4:c.*135G>A	ENSP00000355896.4:n.*135G>A
ENST00000366930.8:c.*135G>A	ENSP00000355897.4:n.*135G>A
ENST00000479322.1:n.864G>A
NM_001135599.2:c.*135G>A	NP_001129071.1:n.*135G>A
NM_003238.3:c.*135G>A	NP_003229.1:n.*135G>A
NM_001135599.3:c.*135G>A	NP_001129071.1:n.*135G>A
NM_003238.4:c.*135G>A	NP_003229.1:n.*135G>A
NR_138148.1:n.2683G>A
NR_138149.1:n.2767G>A
NM_003238.5:c.*135G>A	NP_003229.1:n.*135G>A
NM_003238.6:c.*135G>A MANE Select	NP_003229.1:n.*135G>A
NM_001135599.4:c.*135G>A	NP_001129071.1:n.*135G>A
NR_138148.2:n.2631G>A
NR_138149.2:n.2715G>A