Canonical Allele Identifier: CA423174144

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 1573163
• ClinVar RCV Id: RCV002215842
• dbSNP Id: rs2102634493
• gnomAD v4: 1-218441344-G-A
• MyVariant Identifiers: chr1:g.218614686G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441344G>A , CM000663.2:g.218441344G>A	GRCh38
NC_000001.10:g.218614686G>A , CM000663.1:g.218614686G>A	GRCh37
NC_000001.9:g.216681309G>A	NCBI36
NG_027721.1:g.101011G>A
NG_027721.2:g.101011G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.1227G>A MANE Select	ENSP00000355897.4:p.Lys409=
ENST00000366929.4:c.1311G>A	ENSP00000355896.4:p.Lys437=
ENST00000366930.8:c.1227G>A	ENSP00000355897.4:p.Lys409=
ENST00000479322.1:n.711G>A
NM_001135599.2:c.1311G>A	NP_001129071.1:p.Lys437=
NM_003238.3:c.1227G>A	NP_003229.1:p.Lys409=
NM_001135599.3:c.1311G>A	NP_001129071.1:p.Lys437=
NM_003238.4:c.1227G>A	NP_003229.1:p.Lys409=
NR_138148.1:n.2530G>A
NR_138149.1:n.2614G>A
NM_003238.5:c.1227G>A	NP_003229.1:p.Lys409=
NM_003238.6:c.1227G>A MANE Select	NP_003229.1:p.Lys409=
NM_001135599.4:c.1311G>A	NP_001129071.1:p.Lys437=
NR_138148.2:n.2478G>A
NR_138149.2:n.2562G>A