Canonical Allele Identifier: CA351808917

Gene: TGFBR2

Linked Data

• dbSNP Id: rs104893818
• MyVariant Identifiers: chr3:g.30715622C>A (hg19) ; chr3:g.30674130C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674130C>A , CM000665.2:g.30674130C>A	GRCh38
NC_000003.11:g.30715622C>A , CM000665.1:g.30715622C>A	GRCh37
NC_000003.10:g.30690626C>A	NCBI36
NG_007490.1:g.72629C>A , LRG_779:g.72629C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1280C>A MANE Select	ENSP00000295754.5:p.Pro427Gln
ENST00000672866.1:n.2876C>A
ENST00000673203.1:n.158C>A
ENST00000295754.9:c.1280C>A	ENSP00000295754.5:p.Pro427Gln
ENST00000359013.4:c.1355C>A	ENSP00000351905.4:p.Pro452Gln
NM_001024847.2:c.1355C>A , LRG_779t1:c.1355C>A	NP_001020018.1:p.Pro452Gln
NM_003242.5:c.1280C>A	NP_003233.4:p.Pro427Gln
XM_011534043.1:c.1307C>A	XP_011532345.1:p.Pro436Gln
XM_011534044.1:c.1232C>A	XP_011532346.1:p.Pro411Gln
XM_011534045.1:c.1175C>A	XP_011532347.1:p.Pro392Gln
XM_011534043.2:c.1307C>A	XP_011532345.1:p.Pro436Gln
XM_011534045.3:c.1175C>A	XP_011532347.1:p.Pro392Gln
XM_017007106.1:c.1175C>A	XP_016862595.1:p.Pro392Gln
NM_003242.6:c.1280C>A MANE Select	NP_003233.4:p.Pro427Gln