Canonical Allele Identifier: CA529466412

Gene: TGFB2

Linked Data

• dbSNP Id: rs1438170562
• gnomAD v2: 1-218610672-T-A
• gnomAD v4: 1-218437330-T-A
• MyVariant Identifiers: chr1:g.218610672T>A (hg19) ; chr1:g.218437330T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218437330T>A , CM000663.2:g.218437330T>A	GRCh38
NC_000001.10:g.218610672T>A , CM000663.1:g.218610672T>A	GRCh37
NC_000001.9:g.216677295T>A	NCBI36
NG_027721.1:g.96997T>A
NG_027721.2:g.96997T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366930.9:c.933-13T>A MANE Select	ENSP00000355897.4:n.933-13T>A
ENST00000366929.4:c.1017-13T>A	ENSP00000355896.4:n.1017-13T>A
ENST00000366930.8:c.933-13T>A	ENSP00000355897.4:n.933-13T>A
ENST00000479322.1:n.417-13T>A
NM_001135599.2:c.1017-13T>A	NP_001129071.1:n.1017-13T>A
NM_003238.3:c.933-13T>A	NP_003229.1:n.933-13T>A
NM_001135599.3:c.1017-13T>A	NP_001129071.1:n.1017-13T>A
NM_003238.4:c.933-13T>A	NP_003229.1:n.933-13T>A
NR_138148.1:n.2236-13T>A
NR_138149.1:n.2320-13T>A
NM_003238.5:c.933-13T>A	NP_003229.1:n.933-13T>A
NM_003238.6:c.933-13T>A MANE Select	NP_003229.1:n.933-13T>A
NM_001135599.4:c.1017-13T>A	NP_001129071.1:n.1017-13T>A
NR_138148.2:n.2184-13T>A
NR_138149.2:n.2268-13T>A