Canonical Allele Identifier: CA351808464

Gene: TGFBR2

Linked Data

• COSMIC: COSM5355677 ; COSM5355678
• MyVariant Identifiers: chr3:g.30713736T>G (hg19) ; chr3:g.30672244T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672244T>G , CM000665.2:g.30672244T>G	GRCh38
NC_000003.11:g.30713736T>G , CM000665.1:g.30713736T>G	GRCh37
NC_000003.10:g.30688740T>G	NCBI36
NG_007490.1:g.70743T>G , LRG_779:g.70743T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1061T>G MANE Select	ENSP00000295754.5:p.Leu354Arg
ENST00000672866.1:n.2657T>G
ENST00000295754.9:c.1061T>G	ENSP00000295754.5:p.Leu354Arg
ENST00000359013.4:c.1136T>G	ENSP00000351905.4:p.Leu379Arg
NM_001024847.2:c.1136T>G , LRG_779t1:c.1136T>G	NP_001020018.1:p.Leu379Arg
NM_003242.5:c.1061T>G	NP_003233.4:p.Leu354Arg
XM_011534043.1:c.1088T>G	XP_011532345.1:p.Leu363Arg
XM_011534044.1:c.1013T>G	XP_011532346.1:p.Leu338Arg
XM_011534045.1:c.956T>G	XP_011532347.1:p.Leu319Arg
XM_011534043.2:c.1088T>G	XP_011532345.1:p.Leu363Arg
XM_011534045.3:c.956T>G	XP_011532347.1:p.Leu319Arg
XM_017007106.1:c.956T>G	XP_016862595.1:p.Leu319Arg
NM_003242.6:c.1061T>G MANE Select	NP_003233.4:p.Leu354Arg