Canonical Allele Identifier: CA1398370

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 1426380
• ClinVar RCV Id: RCV001929377
• dbSNP Id: rs779872141
• ExAC: 1:218520137 T / C
• gnomAD v2: 1-218520137-T-C
• gnomAD v4: 1-218346795-T-C
• MyVariant Identifiers: chr1:g.218520137T>C (hg19) ; chr1:g.218346795T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346795T>C , CM000663.2:g.218346795T>C	GRCh38
NC_000001.10:g.218520137T>C , CM000663.1:g.218520137T>C	GRCh37
NC_000001.9:g.216586760T>C	NCBI36
NG_027721.1:g.6462T>C
NG_027721.2:g.6462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.94T>C MANE Select	ENSP00000355897.4:p.Phe32Leu
ENST00000366929.4:c.94T>C	ENSP00000355896.4:p.Phe32Leu
ENST00000366930.8:c.94T>C	ENSP00000355897.4:p.Phe32Leu
NM_001135599.2:c.94T>C	NP_001129071.1:p.Phe32Leu
NM_003238.3:c.94T>C	NP_003229.1:p.Phe32Leu
NM_001135599.3:c.94T>C	NP_001129071.1:p.Phe32Leu
NM_003238.4:c.94T>C	NP_003229.1:p.Phe32Leu
NR_138148.1:n.1512T>C
NR_138149.1:n.1512T>C
NM_003238.5:c.94T>C	NP_003229.1:p.Phe32Leu
NM_003238.6:c.94T>C MANE Select	NP_003229.1:p.Phe32Leu
NM_001135599.4:c.94T>C	NP_001129071.1:p.Phe32Leu
NR_138148.2:n.1460T>C
NR_138149.2:n.1460T>C