Canonical Allele Identifier: CA351809139

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1332771
• ClinVar RCV Id: RCV001806345 ; RCV003163945
• dbSNP Id: rs104893816
• MyVariant Identifiers: chr3:g.30715721G>C (hg19) ; chr3:g.30674229G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674229G>C , CM000665.2:g.30674229G>C	GRCh38
NC_000003.11:g.30715721G>C , CM000665.1:g.30715721G>C	GRCh37
NC_000003.10:g.30690725G>C	NCBI36
NG_007490.1:g.72728G>C , LRG_779:g.72728G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1379G>C MANE Select	ENSP00000295754.5:p.Arg460Pro
ENST00000672866.1:n.2975G>C
ENST00000673203.1:n.257G>C
ENST00000295754.9:c.1379G>C	ENSP00000295754.5:p.Arg460Pro
ENST00000359013.4:c.1454G>C	ENSP00000351905.4:p.Arg485Pro
NM_001024847.2:c.1454G>C , LRG_779t1:c.1454G>C	NP_001020018.1:p.Arg485Pro
NM_003242.5:c.1379G>C	NP_003233.4:p.Arg460Pro
XM_011534043.1:c.1406G>C	XP_011532345.1:p.Arg469Pro
XM_011534044.1:c.1331G>C	XP_011532346.1:p.Arg444Pro
XM_011534045.1:c.1274G>C	XP_011532347.1:p.Arg425Pro
XM_011534043.2:c.1406G>C	XP_011532345.1:p.Arg469Pro
XM_011534045.3:c.1274G>C	XP_011532347.1:p.Arg425Pro
XM_017007106.1:c.1274G>C	XP_016862595.1:p.Arg425Pro
NM_003242.6:c.1379G>C MANE Select	NP_003233.4:p.Arg460Pro