Canonical Allele Identifier: CA351807821

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 2004615
• ClinVar RCV Id: RCV002816220
• MyVariant Identifiers: chr3:g.30713441G>C (hg19) ; chr3:g.30671949G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671949G>C , CM000665.2:g.30671949G>C	GRCh38
NC_000003.11:g.30713441G>C , CM000665.1:g.30713441G>C	GRCh37
NC_000003.10:g.30688445G>C	NCBI36
NG_007490.1:g.70448G>C , LRG_779:g.70448G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.766G>C MANE Select	ENSP00000295754.5:p.Ala256Pro
ENST00000672866.1:n.2362G>C
ENST00000295754.9:c.766G>C	ENSP00000295754.5:p.Ala256Pro
ENST00000359013.4:c.841G>C	ENSP00000351905.4:p.Ala281Pro
NM_001024847.2:c.841G>C , LRG_779t1:c.841G>C	NP_001020018.1:p.Ala281Pro
NM_003242.5:c.766G>C	NP_003233.4:p.Ala256Pro
XM_011534043.1:c.793G>C	XP_011532345.1:p.Ala265Pro
XM_011534044.1:c.718G>C	XP_011532346.1:p.Ala240Pro
XM_011534045.1:c.661G>C	XP_011532347.1:p.Ala221Pro
XM_011534043.2:c.793G>C	XP_011532345.1:p.Ala265Pro
XM_011534045.3:c.661G>C	XP_011532347.1:p.Ala221Pro
XM_017007106.1:c.661G>C	XP_016862595.1:p.Ala221Pro
NM_003242.6:c.766G>C MANE Select	NP_003233.4:p.Ala256Pro