Canonical Allele Identifier: CA351809118

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30715712T>A (hg19) ; chr3:g.30674220T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674220T>A , CM000665.2:g.30674220T>A	GRCh38
NC_000003.11:g.30715712T>A , CM000665.1:g.30715712T>A	GRCh37
NC_000003.10:g.30690716T>A	NCBI36
NG_007490.1:g.72719T>A , LRG_779:g.72719T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1370T>A MANE Select	ENSP00000295754.5:p.Met457Lys
ENST00000672866.1:n.2966T>A
ENST00000673203.1:n.248T>A
ENST00000295754.9:c.1370T>A	ENSP00000295754.5:p.Met457Lys
ENST00000359013.4:c.1445T>A	ENSP00000351905.4:p.Met482Lys
NM_001024847.2:c.1445T>A , LRG_779t1:c.1445T>A	NP_001020018.1:p.Met482Lys
NM_003242.5:c.1370T>A	NP_003233.4:p.Met457Lys
XM_011534043.1:c.1397T>A	XP_011532345.1:p.Met466Lys
XM_011534044.1:c.1322T>A	XP_011532346.1:p.Met441Lys
XM_011534045.1:c.1265T>A	XP_011532347.1:p.Met422Lys
XM_011534043.2:c.1397T>A	XP_011532345.1:p.Met466Lys
XM_011534045.3:c.1265T>A	XP_011532347.1:p.Met422Lys
XM_017007106.1:c.1265T>A	XP_016862595.1:p.Met422Lys
NM_003242.6:c.1370T>A MANE Select	NP_003233.4:p.Met457Lys