Canonical Allele Identifier: CA16611213

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 408440
• ClinVar RCV Id: RCV000473289
• dbSNP Id: rs886038768
• MyVariant Identifiers: chr3:g.30732952A>C (hg19) ; chr3:g.30691460A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691460A>C , CM000665.2:g.30691460A>C	GRCh38
NC_000003.11:g.30732952A>C , CM000665.1:g.30732952A>C	GRCh37
NC_000003.10:g.30707956A>C	NCBI36
NG_007490.1:g.89959A>C , LRG_779:g.89959A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1565A>C MANE Select	ENSP00000295754.5:p.Asp522Ala
ENST00000672050.1:n.449A>C
ENST00000672866.1:n.3161A>C
ENST00000673203.1:n.443A>C
ENST00000295754.9:c.1565A>C	ENSP00000295754.5:p.Asp522Ala
ENST00000359013.4:c.1640A>C	ENSP00000351905.4:p.Asp547Ala
NM_001024847.2:c.1640A>C , LRG_779t1:c.1640A>C	NP_001020018.1:p.Asp547Ala
NM_003242.5:c.1565A>C	NP_003233.4:p.Asp522Ala
XM_011534043.1:c.1592A>C	XP_011532345.1:p.Asp531Ala
XM_011534044.1:c.1517A>C	XP_011532346.1:p.Asp506Ala
XM_011534045.1:c.1460A>C	XP_011532347.1:p.Asp487Ala
XM_011534043.2:c.1592A>C	XP_011532345.1:p.Asp531Ala
XM_011534045.3:c.1460A>C	XP_011532347.1:p.Asp487Ala
XM_017007106.1:c.1460A>C	XP_016862595.1:p.Asp487Ala
NM_003242.6:c.1565A>C MANE Select	NP_003233.4:p.Asp522Ala