Canonical Allele Identifier: CA045505

Gene: TGFBR2

Linked Data

• dbSNP Id: rs777689025
• ExAC: 3:30713735 C / A
• MyVariant Identifiers: chr3:g.30713735C>A (hg19) ; chr3:g.30672243C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672243C>A , CM000665.2:g.30672243C>A	GRCh38
NC_000003.11:g.30713735C>A , CM000665.1:g.30713735C>A	GRCh37
NC_000003.10:g.30688739C>A	NCBI36
NG_007490.1:g.70742C>A , LRG_779:g.70742C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1060C>A MANE Select	ENSP00000295754.5:p.Leu354Ile
ENST00000672866.1:n.2656C>A
ENST00000295754.9:c.1060C>A	ENSP00000295754.5:p.Leu354Ile
ENST00000359013.4:c.1135C>A	ENSP00000351905.4:p.Leu379Ile
NM_001024847.2:c.1135C>A , LRG_779t1:c.1135C>A	NP_001020018.1:p.Leu379Ile
NM_003242.5:c.1060C>A	NP_003233.4:p.Leu354Ile
XM_011534043.1:c.1087C>A	XP_011532345.1:p.Leu363Ile
XM_011534044.1:c.1012C>A	XP_011532346.1:p.Leu338Ile
XM_011534045.1:c.955C>A	XP_011532347.1:p.Leu319Ile
XM_011534043.2:c.1087C>A	XP_011532345.1:p.Leu363Ile
XM_011534045.3:c.955C>A	XP_011532347.1:p.Leu319Ile
XM_017007106.1:c.955C>A	XP_016862595.1:p.Leu319Ile
NM_003242.6:c.1060C>A MANE Select	NP_003233.4:p.Leu354Ile