Canonical Allele Identifier: CA020590

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 12509
• ClinVar RCV Id: RCV000013333 ; RCV001193761 ; RCV001253567 ; RCV001851822
• dbSNP Id: rs104893813
• MyVariant Identifiers: chr3:g.30713738G>C (hg19) ; chr3:g.30672246G>C (hg38)
• PubMed: PMID:15731757

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672246G>C , CM000665.2:g.30672246G>C	GRCh38
NC_000003.11:g.30713738G>C , CM000665.1:g.30713738G>C	GRCh37
NC_000003.10:g.30688742G>C	NCBI36
NG_007490.1:g.70745G>C , LRG_779:g.70745G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1063G>C MANE Select	ENSP00000295754.5:p.Ala355Pro
ENST00000672866.1:n.2659G>C
ENST00000295754.9:c.1063G>C	ENSP00000295754.5:p.Ala355Pro
ENST00000359013.4:c.1138G>C	ENSP00000351905.4:p.Ala380Pro
NM_001024847.2:c.1138G>C , LRG_779t1:c.1138G>C	NP_001020018.1:p.Ala380Pro
NM_003242.5:c.1063G>C	NP_003233.4:p.Ala355Pro
XM_011534043.1:c.1090G>C	XP_011532345.1:p.Ala364Pro
XM_011534044.1:c.1015G>C	XP_011532346.1:p.Ala339Pro
XM_011534045.1:c.958G>C	XP_011532347.1:p.Ala320Pro
XM_011534043.2:c.1090G>C	XP_011532345.1:p.Ala364Pro
XM_011534045.3:c.958G>C	XP_011532347.1:p.Ala320Pro
XM_017007106.1:c.958G>C	XP_016862595.1:p.Ala320Pro
NM_003242.6:c.1063G>C MANE Select	NP_003233.4:p.Ala355Pro