Canonical Allele Identifier: CA433058542

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1098800
• ClinVar RCV Id: RCV001420864 ; RCV002554098
• dbSNP Id: rs2125434109
• MyVariant Identifiers: chr3:g.30713396C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671904C>T , CM000665.2:g.30671904C>T	GRCh38
NC_000003.11:g.30713396C>T , CM000665.1:g.30713396C>T	GRCh37
NC_000003.10:g.30688400C>T	NCBI36
NG_007490.1:g.70403C>T , LRG_779:g.70403C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.721C>T MANE Select	ENSP00000295754.5:p.Leu241=
ENST00000672866.1:n.2317C>T
ENST00000295754.9:c.721C>T	ENSP00000295754.5:p.Leu241=
ENST00000359013.4:c.796C>T	ENSP00000351905.4:p.Leu266=
NM_001024847.2:c.796C>T , LRG_779t1:c.796C>T	NP_001020018.1:p.Leu266=
NM_003242.5:c.721C>T	NP_003233.4:p.Leu241=
XM_011534043.1:c.748C>T	XP_011532345.1:p.Leu250=
XM_011534044.1:c.673C>T	XP_011532346.1:p.Leu225=
XM_011534045.1:c.616C>T	XP_011532347.1:p.Leu206=
XM_011534043.2:c.748C>T	XP_011532345.1:p.Leu250=
XM_011534045.3:c.616C>T	XP_011532347.1:p.Leu206=
XM_017007106.1:c.616C>T	XP_016862595.1:p.Leu206=
NM_003242.6:c.721C>T MANE Select	NP_003233.4:p.Leu241=