Canonical Allele Identifier: CA1398665

Gene: TGFB2

Linked Data

• dbSNP Id: rs768326808
• ExAC: 1:218610787 C / A
• MyVariant Identifiers: chr1:g.218610787C>A (hg19) ; chr1:g.218437445C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218437445C>A , CM000663.2:g.218437445C>A	GRCh38
NC_000001.10:g.218610787C>A , CM000663.1:g.218610787C>A	GRCh37
NC_000001.9:g.216677410C>A	NCBI36
NG_027721.1:g.97112C>A
NG_027721.2:g.97112C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.1035C>A MANE Select	ENSP00000355897.4:p.Phe345Leu
ENST00000366929.4:c.1119C>A	ENSP00000355896.4:p.Phe373Leu
ENST00000366930.8:c.1035C>A	ENSP00000355897.4:p.Phe345Leu
ENST00000479322.1:n.519C>A
NM_001135599.2:c.1119C>A	NP_001129071.1:p.Phe373Leu
NM_003238.3:c.1035C>A	NP_003229.1:p.Phe345Leu
NM_001135599.3:c.1119C>A	NP_001129071.1:p.Phe373Leu
NM_003238.4:c.1035C>A	NP_003229.1:p.Phe345Leu
NR_138148.1:n.2338C>A
NR_138149.1:n.2422C>A
NM_003238.5:c.1035C>A	NP_003229.1:p.Phe345Leu
NM_003238.6:c.1035C>A MANE Select	NP_003229.1:p.Phe345Leu
NM_001135599.4:c.1119C>A	NP_001129071.1:p.Phe373Leu
NR_138148.2:n.2286C>A
NR_138149.2:n.2370C>A