Canonical Allele Identifier: CA351808690

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 2811252
• ClinVar RCV Id: RCV003643667
• MyVariant Identifiers: chr3:g.30713847T>C (hg19) ; chr3:g.30672355T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672355T>C , CM000665.2:g.30672355T>C	GRCh38
NC_000003.11:g.30713847T>C , CM000665.1:g.30713847T>C	GRCh37
NC_000003.10:g.30688851T>C	NCBI36
NG_007490.1:g.70854T>C , LRG_779:g.70854T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1172T>C MANE Select	ENSP00000295754.5:p.Leu391Pro
ENST00000672866.1:n.2768T>C
ENST00000295754.9:c.1172T>C	ENSP00000295754.5:p.Leu391Pro
ENST00000359013.4:c.1247T>C	ENSP00000351905.4:p.Leu416Pro
NM_001024847.2:c.1247T>C , LRG_779t1:c.1247T>C	NP_001020018.1:p.Leu416Pro
NM_003242.5:c.1172T>C	NP_003233.4:p.Leu391Pro
XM_011534043.1:c.1199T>C	XP_011532345.1:p.Leu400Pro
XM_011534044.1:c.1124T>C	XP_011532346.1:p.Leu375Pro
XM_011534045.1:c.1067T>C	XP_011532347.1:p.Leu356Pro
XM_011534043.2:c.1199T>C	XP_011532345.1:p.Leu400Pro
XM_011534045.3:c.1067T>C	XP_011532347.1:p.Leu356Pro
XM_017007106.1:c.1067T>C	XP_016862595.1:p.Leu356Pro
NM_003242.6:c.1172T>C MANE Select	NP_003233.4:p.Leu391Pro