Canonical Allele Identifier: CA351809504

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30732924G>A (hg19) ; chr3:g.30691432G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691432G>A , CM000665.2:g.30691432G>A	GRCh38
NC_000003.11:g.30732924G>A , CM000665.1:g.30732924G>A	GRCh37
NC_000003.10:g.30707928G>A	NCBI36
NG_007490.1:g.89931G>A , LRG_779:g.89931G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1537G>A MANE Select	ENSP00000295754.5:p.Val513Met
ENST00000672050.1:n.421G>A
ENST00000672866.1:n.3133G>A
ENST00000673203.1:n.415G>A
ENST00000295754.9:c.1537G>A	ENSP00000295754.5:p.Val513Met
ENST00000359013.4:c.1612G>A	ENSP00000351905.4:p.Val538Met
NM_001024847.2:c.1612G>A , LRG_779t1:c.1612G>A	NP_001020018.1:p.Val538Met
NM_003242.5:c.1537G>A	NP_003233.4:p.Val513Met
XM_011534043.1:c.1564G>A	XP_011532345.1:p.Val522Met
XM_011534044.1:c.1489G>A	XP_011532346.1:p.Val497Met
XM_011534045.1:c.1432G>A	XP_011532347.1:p.Val478Met
XM_011534043.2:c.1564G>A	XP_011532345.1:p.Val522Met
XM_011534045.3:c.1432G>A	XP_011532347.1:p.Val478Met
XM_017007106.1:c.1432G>A	XP_016862595.1:p.Val478Met
NM_003242.6:c.1537G>A MANE Select	NP_003233.4:p.Val513Met