Canonical Allele Identifier: CA1398660

Gene: TGFB2

Linked Data

• dbSNP Id: rs781013995
• ExAC: 1:218610770 G / A
• gnomAD v2: 1-218610770-G-A
• gnomAD v4: 1-218437428-G-A
• MyVariant Identifiers: chr1:g.218610770G>A (hg19) ; chr1:g.218437428G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218437428G>A , CM000663.2:g.218437428G>A	GRCh38
NC_000001.10:g.218610770G>A , CM000663.1:g.218610770G>A	GRCh37
NC_000001.9:g.216677393G>A	NCBI36
NG_027721.1:g.97095G>A
NG_027721.2:g.97095G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366930.9:c.1018G>A MANE Select	ENSP00000355897.4:p.Gly340Arg
ENST00000366929.4:c.1102G>A	ENSP00000355896.4:p.Gly368Arg
ENST00000366930.8:c.1018G>A	ENSP00000355897.4:p.Gly340Arg
ENST00000479322.1:n.502G>A
NM_001135599.2:c.1102G>A	NP_001129071.1:p.Gly368Arg
NM_003238.3:c.1018G>A	NP_003229.1:p.Gly340Arg
NM_001135599.3:c.1102G>A	NP_001129071.1:p.Gly368Arg
NM_003238.4:c.1018G>A	NP_003229.1:p.Gly340Arg
NR_138148.1:n.2321G>A
NR_138149.1:n.2405G>A
NM_003238.5:c.1018G>A	NP_003229.1:p.Gly340Arg
NM_003238.6:c.1018G>A MANE Select	NP_003229.1:p.Gly340Arg
NM_001135599.4:c.1102G>A	NP_001129071.1:p.Gly368Arg
NR_138148.2:n.2269G>A
NR_138149.2:n.2353G>A