Canonical Allele Identifier: CA351808300

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1429960106
• gnomAD v2: 3-30713656-C-G
• gnomAD v4: 3-30672164-C-G
• MyVariant Identifiers: chr3:g.30713656C>G (hg19) ; chr3:g.30672164C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672164C>G , CM000665.2:g.30672164C>G	GRCh38
NC_000003.11:g.30713656C>G , CM000665.1:g.30713656C>G	GRCh37
NC_000003.10:g.30688660C>G	NCBI36
NG_007490.1:g.70663C>G , LRG_779:g.70663C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.981C>G MANE Select	ENSP00000295754.5:p.Phe327Leu
ENST00000672866.1:n.2577C>G
ENST00000295754.9:c.981C>G	ENSP00000295754.5:p.Phe327Leu
ENST00000359013.4:c.1056C>G	ENSP00000351905.4:p.Phe352Leu
NM_001024847.2:c.1056C>G , LRG_779t1:c.1056C>G	NP_001020018.1:p.Phe352Leu
NM_003242.5:c.981C>G	NP_003233.4:p.Phe327Leu
XM_011534043.1:c.1008C>G	XP_011532345.1:p.Phe336Leu
XM_011534044.1:c.933C>G	XP_011532346.1:p.Phe311Leu
XM_011534045.1:c.876C>G	XP_011532347.1:p.Phe292Leu
XM_011534043.2:c.1008C>G	XP_011532345.1:p.Phe336Leu
XM_011534045.3:c.876C>G	XP_011532347.1:p.Phe292Leu
XM_017007106.1:c.876C>G	XP_016862595.1:p.Phe292Leu
NM_003242.6:c.981C>G MANE Select	NP_003233.4:p.Phe327Leu