Canonical Allele Identifier: CA37597365

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 459266
• ClinVar RCV Id: RCV001824333 ; RCV002350208
• dbSNP Id: rs368157039
• gnomAD v3: 1-218405191-C-T
• gnomAD v4: 1-218405191-C-T
• MyVariant Identifiers: chr1:g.218578533C>T (hg19) ; chr1:g.218405191C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218405191C>T , CM000663.2:g.218405191C>T	GRCh38
NC_000001.10:g.218578533C>T , CM000663.1:g.218578533C>T	GRCh37
NC_000001.9:g.216645156C>T	NCBI36
NG_027721.1:g.64858C>T
NG_027721.2:g.64858C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366930.9:c.369C>T MANE Select	ENSP00000355897.4:p.Tyr123=
ENST00000366929.4:c.453C>T	ENSP00000355896.4:p.Tyr151=
ENST00000366930.8:c.369C>T	ENSP00000355897.4:p.Tyr123=
ENST00000488793.1:n.33C>T
NM_001135599.2:c.453C>T	NP_001129071.1:p.Tyr151=
NM_003238.3:c.369C>T	NP_003229.1:p.Tyr123=
NM_001135599.3:c.453C>T	NP_001129071.1:p.Tyr151=
NM_003238.4:c.369C>T	NP_003229.1:p.Tyr123=
NR_138148.1:n.1787C>T
NR_138149.1:n.1871C>T
NM_003238.5:c.369C>T	NP_003229.1:p.Tyr123=
NM_003238.6:c.369C>T MANE Select	NP_003229.1:p.Tyr123=
NM_001135599.4:c.453C>T	NP_001129071.1:p.Tyr151=
NR_138148.2:n.1735C>T
NR_138149.2:n.1819C>T