Canonical Allele Identifier: CA020579

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 165392
• ClinVar RCV Id: RCV000152005 ; RCV000808510 ; RCV002245982 ; RCV003137652
• dbSNP Id: rs727503473
• MyVariant Identifiers: chr3:g.30713691G>C (hg19) ; chr3:g.30672199G>C (hg38)
• PubMed: PMID:24793577

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672199G>C , CM000665.2:g.30672199G>C	GRCh38
NC_000003.11:g.30713691G>C , CM000665.1:g.30713691G>C	GRCh37
NC_000003.10:g.30688695G>C	NCBI36
NG_007490.1:g.70698G>C , LRG_779:g.70698G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1016G>C MANE Select	ENSP00000295754.5:p.Arg339Pro
ENST00000672866.1:n.2612G>C
ENST00000295754.9:c.1016G>C	ENSP00000295754.5:p.Arg339Pro
ENST00000359013.4:c.1091G>C	ENSP00000351905.4:p.Arg364Pro
NM_001024847.2:c.1091G>C , LRG_779t1:c.1091G>C	NP_001020018.1:p.Arg364Pro
NM_003242.5:c.1016G>C	NP_003233.4:p.Arg339Pro
XM_011534043.1:c.1043G>C	XP_011532345.1:p.Arg348Pro
XM_011534044.1:c.968G>C	XP_011532346.1:p.Arg323Pro
XM_011534045.1:c.911G>C	XP_011532347.1:p.Arg304Pro
XM_011534043.2:c.1043G>C	XP_011532345.1:p.Arg348Pro
XM_011534045.3:c.911G>C	XP_011532347.1:p.Arg304Pro
XM_017007106.1:c.911G>C	XP_016862595.1:p.Arg304Pro
NM_003242.6:c.1016G>C MANE Select	NP_003233.4:p.Arg339Pro