Canonical Allele Identifier: CA351809515

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1575166645
• MyVariant Identifiers: chr3:g.30732929T>A (hg19) ; chr3:g.30691437T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691437T>A , CM000665.2:g.30691437T>A	GRCh38
NC_000003.11:g.30732929T>A , CM000665.1:g.30732929T>A	GRCh37
NC_000003.10:g.30707933T>A	NCBI36
NG_007490.1:g.89936T>A , LRG_779:g.89936T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1542T>A MANE Select	ENSP00000295754.5:p.Cys514Ter
ENST00000672050.1:n.426T>A
ENST00000672866.1:n.3138T>A
ENST00000673203.1:n.420T>A
ENST00000295754.9:c.1542T>A	ENSP00000295754.5:p.Cys514Ter
ENST00000359013.4:c.1617T>A	ENSP00000351905.4:p.Cys539Ter
NM_001024847.2:c.1617T>A , LRG_779t1:c.1617T>A	NP_001020018.1:p.Cys539Ter
NM_003242.5:c.1542T>A	NP_003233.4:p.Cys514Ter
XM_011534043.1:c.1569T>A	XP_011532345.1:p.Cys523Ter
XM_011534044.1:c.1494T>A	XP_011532346.1:p.Cys498Ter
XM_011534045.1:c.1437T>A	XP_011532347.1:p.Cys479Ter
XM_011534043.2:c.1569T>A	XP_011532345.1:p.Cys523Ter
XM_011534045.3:c.1437T>A	XP_011532347.1:p.Cys479Ter
XM_017007106.1:c.1437T>A	XP_016862595.1:p.Cys479Ter
NM_003242.6:c.1542T>A MANE Select	NP_003233.4:p.Cys514Ter