Canonical Allele Identifier: CA351809669

Gene: TGFBR2

Linked Data

• COSMIC: COSM6475885 ; COSM6475886
• MyVariant Identifiers: chr3:g.30733001C>A (hg19) ; chr3:g.30691509C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691509C>A , CM000665.2:g.30691509C>A	GRCh38
NC_000003.11:g.30733001C>A , CM000665.1:g.30733001C>A	GRCh37
NC_000003.10:g.30708005C>A	NCBI36
NG_007490.1:g.90008C>A , LRG_779:g.90008C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1614C>A MANE Select	ENSP00000295754.5:p.Phe538Leu
ENST00000672050.1:n.498C>A
ENST00000672866.1:n.3210C>A
ENST00000673203.1:n.492C>A
ENST00000295754.9:c.1614C>A	ENSP00000295754.5:p.Phe538Leu
ENST00000359013.4:c.1689C>A	ENSP00000351905.4:p.Phe563Leu
NM_001024847.2:c.1689C>A , LRG_779t1:c.1689C>A	NP_001020018.1:p.Phe563Leu
NM_003242.5:c.1614C>A	NP_003233.4:p.Phe538Leu
XM_011534043.1:c.1641C>A	XP_011532345.1:p.Phe547Leu
XM_011534044.1:c.1566C>A	XP_011532346.1:p.Phe522Leu
XM_011534045.1:c.1509C>A	XP_011532347.1:p.Phe503Leu
XM_011534043.2:c.1641C>A	XP_011532345.1:p.Phe547Leu
XM_011534045.3:c.1509C>A	XP_011532347.1:p.Phe503Leu
XM_017007106.1:c.1509C>A	XP_016862595.1:p.Phe503Leu
NM_003242.6:c.1614C>A MANE Select	NP_003233.4:p.Phe538Leu