Canonical Allele Identifier: CA423412706

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 1775491
• ClinVar RCV Id: RCV002405644
• MyVariant Identifiers: chr1:g.218520199T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346857T>C , CM000663.2:g.218346857T>C	GRCh38
NC_000001.10:g.218520199T>C , CM000663.1:g.218520199T>C	GRCh37
NC_000001.9:g.216586822T>C	NCBI36
NG_027721.1:g.6524T>C
NG_027721.2:g.6524T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.156T>C MANE Select	ENSP00000355897.4:p.Ser52=
ENST00000366929.4:c.156T>C	ENSP00000355896.4:p.Ser52=
ENST00000366930.8:c.156T>C	ENSP00000355897.4:p.Ser52=
NM_001135599.2:c.156T>C	NP_001129071.1:p.Ser52=
NM_003238.3:c.156T>C	NP_003229.1:p.Ser52=
NM_001135599.3:c.156T>C	NP_001129071.1:p.Ser52=
NM_003238.4:c.156T>C	NP_003229.1:p.Ser52=
NR_138148.1:n.1574T>C
NR_138149.1:n.1574T>C
NM_003238.5:c.156T>C	NP_003229.1:p.Ser52=
NM_003238.6:c.156T>C MANE Select	NP_003229.1:p.Ser52=
NM_001135599.4:c.156T>C	NP_001129071.1:p.Ser52=
NR_138148.2:n.1522T>C
NR_138149.2:n.1522T>C