Canonical Allele Identifier: CA351808333

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30713672C>A (hg19) ; chr3:g.30672180C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672180C>A , CM000665.2:g.30672180C>A	GRCh38
NC_000003.11:g.30713672C>A , CM000665.1:g.30713672C>A	GRCh37
NC_000003.10:g.30688676C>A	NCBI36
NG_007490.1:g.70679C>A , LRG_779:g.70679C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.997C>A MANE Select	ENSP00000295754.5:p.Leu333Ile
ENST00000672866.1:n.2593C>A
ENST00000295754.9:c.997C>A	ENSP00000295754.5:p.Leu333Ile
ENST00000359013.4:c.1072C>A	ENSP00000351905.4:p.Leu358Ile
NM_001024847.2:c.1072C>A , LRG_779t1:c.1072C>A	NP_001020018.1:p.Leu358Ile
NM_003242.5:c.997C>A	NP_003233.4:p.Leu333Ile
XM_011534043.1:c.1024C>A	XP_011532345.1:p.Leu342Ile
XM_011534044.1:c.949C>A	XP_011532346.1:p.Leu317Ile
XM_011534045.1:c.892C>A	XP_011532347.1:p.Leu298Ile
XM_011534043.2:c.1024C>A	XP_011532345.1:p.Leu342Ile
XM_011534045.3:c.892C>A	XP_011532347.1:p.Leu298Ile
XM_017007106.1:c.892C>A	XP_016862595.1:p.Leu298Ile
NM_003242.6:c.997C>A MANE Select	NP_003233.4:p.Leu333Ile