Canonical Allele Identifier: CA731610195

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 873708
• ClinVar RCV Id: RCV001096073
• dbSNP Id: rs1413240885
• gnomAD v3: 1-218441555-A-C
• gnomAD v4: 1-218441555-A-C
• MyVariant Identifiers: chr1:g.218614897A>C (hg19) ; chr1:g.218441555A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441555A>C , CM000663.2:g.218441555A>C	GRCh38
NC_000001.10:g.218614897A>C , CM000663.1:g.218614897A>C	GRCh37
NC_000001.9:g.216681520A>C	NCBI36
NG_027721.1:g.101222A>C
NG_027721.2:g.101222A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.*193A>C MANE Select	ENSP00000355897.4:n.*193A>C
ENST00000366929.4:c.*193A>C	ENSP00000355896.4:n.*193A>C
ENST00000366930.8:c.*193A>C	ENSP00000355897.4:n.*193A>C
ENST00000479322.1:n.922A>C
NM_001135599.2:c.*193A>C	NP_001129071.1:n.*193A>C
NM_003238.3:c.*193A>C	NP_003229.1:n.*193A>C
NM_001135599.3:c.*193A>C	NP_001129071.1:n.*193A>C
NM_003238.4:c.*193A>C	NP_003229.1:n.*193A>C
NR_138148.1:n.2741A>C
NR_138149.1:n.2825A>C
NM_003238.5:c.*193A>C	NP_003229.1:n.*193A>C
NM_003238.6:c.*193A>C MANE Select	NP_003229.1:n.*193A>C
NM_001135599.4:c.*193A>C	NP_001129071.1:n.*193A>C
NR_138148.2:n.2689A>C
NR_138149.2:n.2773A>C