Canonical Allele Identifier: CA1398446

Gene: TGFB2

Linked Data

• dbSNP Id: rs375115534
• ExAC: 1:218578524 C / A
• gnomAD v2: 1-218578524-C-A
• MyVariant Identifiers: chr1:g.218578524C>A (hg19) ; chr1:g.218405182C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218405182C>A , CM000663.2:g.218405182C>A	GRCh38
NC_000001.10:g.218578524C>A , CM000663.1:g.218578524C>A	GRCh37
NC_000001.9:g.216645147C>A	NCBI36
NG_027721.1:g.64849C>A
NG_027721.2:g.64849C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366930.9:c.360C>A MANE Select	ENSP00000355897.4:p.Pro120=
ENST00000366929.4:c.444C>A	ENSP00000355896.4:p.Pro148=
ENST00000366930.8:c.360C>A	ENSP00000355897.4:p.Pro120=
ENST00000488793.1:n.24C>A
NM_001135599.2:c.444C>A	NP_001129071.1:p.Pro148=
NM_003238.3:c.360C>A	NP_003229.1:p.Pro120=
NM_001135599.3:c.444C>A	NP_001129071.1:p.Pro148=
NM_003238.4:c.360C>A	NP_003229.1:p.Pro120=
NR_138148.1:n.1778C>A
NR_138149.1:n.1862C>A
NM_003238.5:c.360C>A	NP_003229.1:p.Pro120=
NM_003238.6:c.360C>A MANE Select	NP_003229.1:p.Pro120=
NM_001135599.4:c.444C>A	NP_001129071.1:p.Pro148=
NR_138148.2:n.1726C>A
NR_138149.2:n.1810C>A