Canonical Allele Identifier: CA71547216

Gene: TGFBR2

Linked Data

• dbSNP Id: rs201601508
• MyVariant Identifiers: chr3:g.30732972C>A (hg19) ; chr3:g.30691480C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691480C>A , CM000665.2:g.30691480C>A	GRCh38
NC_000003.11:g.30732972C>A , CM000665.1:g.30732972C>A	GRCh37
NC_000003.10:g.30707976C>A	NCBI36
NG_007490.1:g.89979C>A , LRG_779:g.89979C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1585C>A MANE Select	ENSP00000295754.5:p.Leu529Ile
ENST00000672050.1:n.469C>A
ENST00000672866.1:n.3181C>A
ENST00000673203.1:n.463C>A
ENST00000295754.9:c.1585C>A	ENSP00000295754.5:p.Leu529Ile
ENST00000359013.4:c.1660C>A	ENSP00000351905.4:p.Leu554Ile
NM_001024847.2:c.1660C>A , LRG_779t1:c.1660C>A	NP_001020018.1:p.Leu554Ile
NM_003242.5:c.1585C>A	NP_003233.4:p.Leu529Ile
XM_011534043.1:c.1612C>A	XP_011532345.1:p.Leu538Ile
XM_011534044.1:c.1537C>A	XP_011532346.1:p.Leu513Ile
XM_011534045.1:c.1480C>A	XP_011532347.1:p.Leu494Ile
XM_011534043.2:c.1612C>A	XP_011532345.1:p.Leu538Ile
XM_011534045.3:c.1480C>A	XP_011532347.1:p.Leu494Ile
XM_017007106.1:c.1480C>A	XP_016862595.1:p.Leu494Ile
NM_003242.6:c.1585C>A MANE Select	NP_003233.4:p.Leu529Ile