Canonical Allele Identifier: CA731610160

Gene: TGFB2

Linked Data

• dbSNP Id: rs1253134155
• gnomAD v3: 1-218441452-T-C
• gnomAD v4: 1-218441452-T-C
• MyVariant Identifiers: chr1:g.218614794T>C (hg19) ; chr1:g.218441452T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441452T>C , CM000663.2:g.218441452T>C	GRCh38
NC_000001.10:g.218614794T>C , CM000663.1:g.218614794T>C	GRCh37
NC_000001.9:g.216681417T>C	NCBI36
NG_027721.1:g.101119T>C
NG_027721.2:g.101119T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.*90T>C MANE Select	ENSP00000355897.4:n.*90T>C
ENST00000366929.4:c.*90T>C	ENSP00000355896.4:n.*90T>C
ENST00000366930.8:c.*90T>C	ENSP00000355897.4:n.*90T>C
ENST00000479322.1:n.819T>C
NM_001135599.2:c.*90T>C	NP_001129071.1:n.*90T>C
NM_003238.3:c.*90T>C	NP_003229.1:n.*90T>C
NM_001135599.3:c.*90T>C	NP_001129071.1:n.*90T>C
NM_003238.4:c.*90T>C	NP_003229.1:n.*90T>C
NR_138148.1:n.2638T>C
NR_138149.1:n.2722T>C
NM_003238.5:c.*90T>C	NP_003229.1:n.*90T>C
NM_003238.6:c.*90T>C MANE Select	NP_003229.1:n.*90T>C
NM_001135599.4:c.*90T>C	NP_001129071.1:n.*90T>C
NR_138148.2:n.2586T>C
NR_138149.2:n.2670T>C