Canonical Allele Identifier: CA423412647

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 1583936
• ClinVar RCV Id: RCV002112105
• dbSNP Id: rs1224916923
• gnomAD v2: 1-218520100-C-T
• gnomAD v4: 1-218346758-C-T
• MyVariant Identifiers: chr1:g.218520100C>T (hg19) ; chr1:g.218346758C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346758C>T , CM000663.2:g.218346758C>T	GRCh38
NC_000001.10:g.218520100C>T , CM000663.1:g.218520100C>T	GRCh37
NC_000001.9:g.216586723C>T	NCBI36
NG_027721.1:g.6425C>T
NG_027721.2:g.6425C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.57C>T MANE Select	ENSP00000355897.4:p.Leu19=
ENST00000366929.4:c.57C>T	ENSP00000355896.4:p.Leu19=
ENST00000366930.8:c.57C>T	ENSP00000355897.4:p.Leu19=
NM_001135599.2:c.57C>T	NP_001129071.1:p.Leu19=
NM_003238.3:c.57C>T	NP_003229.1:p.Leu19=
NM_001135599.3:c.57C>T	NP_001129071.1:p.Leu19=
NM_003238.4:c.57C>T	NP_003229.1:p.Leu19=
NR_138148.1:n.1475C>T
NR_138149.1:n.1475C>T
NM_003238.5:c.57C>T	NP_003229.1:p.Leu19=
NM_003238.6:c.57C>T MANE Select	NP_003229.1:p.Leu19=
NM_001135599.4:c.57C>T	NP_001129071.1:p.Leu19=
NR_138148.2:n.1423C>T
NR_138149.2:n.1423C>T