Canonical Allele Identifier: CA529466327

Gene: TGFB2

Linked Data

• dbSNP Id: rs200702935
• gnomAD v2: 1-218520039-A-C
• gnomAD v3: 1-218346697-A-C
• gnomAD v4: 1-218346697-A-C
• MyVariant Identifiers: chr1:g.218520039A>C (hg19) ; chr1:g.218346697A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346697A>C , CM000663.2:g.218346697A>C	GRCh38
NC_000001.10:g.218520039A>C , CM000663.1:g.218520039A>C	GRCh37
NC_000001.9:g.216586662A>C	NCBI36
NG_027721.1:g.6364A>C
NG_027721.2:g.6364A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.-5A>C MANE Select	ENSP00000355897.4:n.-5A>C
ENST00000366929.4:c.-5A>C	ENSP00000355896.4:n.-5A>C
ENST00000366930.8:c.-5A>C	ENSP00000355897.4:n.-5A>C
NM_001135599.2:c.-5A>C	NP_001129071.1:n.-5A>C
NM_003238.3:c.-5A>C	NP_003229.1:n.-5A>C
NM_001135599.3:c.-5A>C	NP_001129071.1:n.-5A>C
NM_003238.4:c.-5A>C	NP_003229.1:n.-5A>C
NR_138148.1:n.1414A>C
NR_138149.1:n.1414A>C
NM_003238.5:c.-5A>C	NP_003229.1:n.-5A>C
NM_003238.6:c.-5A>C MANE Select	NP_003229.1:n.-5A>C
NM_001135599.4:c.-5A>C	NP_001129071.1:n.-5A>C
NR_138148.2:n.1362A>C
NR_138149.2:n.1362A>C