Canonical Allele Identifier: CA323900

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 213930
• ClinVar RCV Id: RCV000199365
• dbSNP Id: rs730880224
• MyVariant Identifiers: chr3:g.30715619C>A (hg19) ; chr3:g.30674127C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674127C>A , CM000665.2:g.30674127C>A	GRCh38
NC_000003.11:g.30715619C>A , CM000665.1:g.30715619C>A	GRCh37
NC_000003.10:g.30690623C>A	NCBI36
NG_007490.1:g.72626C>A , LRG_779:g.72626C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1277C>A MANE Select	ENSP00000295754.5:p.Ala426Asp
ENST00000672866.1:n.2873C>A
ENST00000673203.1:n.155C>A
ENST00000295754.9:c.1277C>A	ENSP00000295754.5:p.Ala426Asp
ENST00000359013.4:c.1352C>A	ENSP00000351905.4:p.Ala451Asp
NM_001024847.2:c.1352C>A , LRG_779t1:c.1352C>A	NP_001020018.1:p.Ala451Asp
NM_003242.5:c.1277C>A	NP_003233.4:p.Ala426Asp
XM_011534043.1:c.1304C>A	XP_011532345.1:p.Ala435Asp
XM_011534044.1:c.1229C>A	XP_011532346.1:p.Ala410Asp
XM_011534045.1:c.1172C>A	XP_011532347.1:p.Ala391Asp
XM_011534043.2:c.1304C>A	XP_011532345.1:p.Ala435Asp
XM_011534045.3:c.1172C>A	XP_011532347.1:p.Ala391Asp
XM_017007106.1:c.1172C>A	XP_016862595.1:p.Ala391Asp
NM_003242.6:c.1277C>A MANE Select	NP_003233.4:p.Ala426Asp