Canonical Allele Identifier: CA351807990

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 920805
• ClinVar RCV Id: RCV001179812
• dbSNP Id: rs1210616464
• MyVariant Identifiers: chr3:g.30713517A>T (hg19) ; chr3:g.30672025A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672025A>T , CM000665.2:g.30672025A>T	GRCh38
NC_000003.11:g.30713517A>T , CM000665.1:g.30713517A>T	GRCh37
NC_000003.10:g.30688521A>T	NCBI36
NG_007490.1:g.70524A>T , LRG_779:g.70524A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.842A>T MANE Select	ENSP00000295754.5:p.Tyr281Phe
ENST00000672866.1:n.2438A>T
ENST00000295754.9:c.842A>T	ENSP00000295754.5:p.Tyr281Phe
ENST00000359013.4:c.917A>T	ENSP00000351905.4:p.Tyr306Phe
NM_001024847.2:c.917A>T , LRG_779t1:c.917A>T	NP_001020018.1:p.Tyr306Phe
NM_003242.5:c.842A>T	NP_003233.4:p.Tyr281Phe
XM_011534043.1:c.869A>T	XP_011532345.1:p.Tyr290Phe
XM_011534044.1:c.794A>T	XP_011532346.1:p.Tyr265Phe
XM_011534045.1:c.737A>T	XP_011532347.1:p.Tyr246Phe
XM_011534043.2:c.869A>T	XP_011532345.1:p.Tyr290Phe
XM_011534045.3:c.737A>T	XP_011532347.1:p.Tyr246Phe
XM_017007106.1:c.737A>T	XP_016862595.1:p.Tyr246Phe
NM_003242.6:c.842A>T MANE Select	NP_003233.4:p.Tyr281Phe