Canonical Allele Identifier: CA423413175

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 759298
• ClinVar RCV Id: RCV001824391
• dbSNP Id: rs1571820584
• MyVariant Identifiers: chr1:g.218520073G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346731G>C , CM000663.2:g.218346731G>C	GRCh38
NC_000001.10:g.218520073G>C , CM000663.1:g.218520073G>C	GRCh37
NC_000001.9:g.216586696G>C	NCBI36
NG_027721.1:g.6398G>C
NG_027721.2:g.6398G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.30G>C MANE Select	ENSP00000355897.4:p.Leu10=
ENST00000366929.4:c.30G>C	ENSP00000355896.4:p.Leu10=
ENST00000366930.8:c.30G>C	ENSP00000355897.4:p.Leu10=
NM_001135599.2:c.30G>C	NP_001129071.1:p.Leu10=
NM_003238.3:c.30G>C	NP_003229.1:p.Leu10=
NM_001135599.3:c.30G>C	NP_001129071.1:p.Leu10=
NM_003238.4:c.30G>C	NP_003229.1:p.Leu10=
NR_138148.1:n.1448G>C
NR_138149.1:n.1448G>C
NM_003238.5:c.30G>C	NP_003229.1:p.Leu10=
NM_003238.6:c.30G>C MANE Select	NP_003229.1:p.Leu10=
NM_001135599.4:c.30G>C	NP_001129071.1:p.Leu10=
NR_138148.2:n.1396G>C
NR_138149.2:n.1396G>C