Canonical Allele Identifier: CA351808259

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 547812
• ClinVar RCV Id: RCV000660322
• dbSNP Id: rs1553630191
• gnomAD v3: 3-30672145-A-G
• gnomAD v4: 3-30672145-A-G
• MyVariant Identifiers: chr3:g.30713637A>G (hg19) ; chr3:g.30672145A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672145A>G , CM000665.2:g.30672145A>G	GRCh38
NC_000003.11:g.30713637A>G , CM000665.1:g.30713637A>G	GRCh37
NC_000003.10:g.30688641A>G	NCBI36
NG_007490.1:g.70644A>G , LRG_779:g.70644A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.962A>G MANE Select	ENSP00000295754.5:p.Tyr321Cys
ENST00000672866.1:n.2558A>G
ENST00000295754.9:c.962A>G	ENSP00000295754.5:p.Tyr321Cys
ENST00000359013.4:c.1037A>G	ENSP00000351905.4:p.Tyr346Cys
NM_001024847.2:c.1037A>G , LRG_779t1:c.1037A>G	NP_001020018.1:p.Tyr346Cys
NM_003242.5:c.962A>G	NP_003233.4:p.Tyr321Cys
XM_011534043.1:c.989A>G	XP_011532345.1:p.Tyr330Cys
XM_011534044.1:c.914A>G	XP_011532346.1:p.Tyr305Cys
XM_011534045.1:c.857A>G	XP_011532347.1:p.Tyr286Cys
XM_011534043.2:c.989A>G	XP_011532345.1:p.Tyr330Cys
XM_011534045.3:c.857A>G	XP_011532347.1:p.Tyr286Cys
XM_017007106.1:c.857A>G	XP_016862595.1:p.Tyr286Cys
NM_003242.6:c.962A>G MANE Select	NP_003233.4:p.Tyr321Cys