Canonical Allele Identifier: CA049532

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 263839
• ClinVar RCV Id: RCV000242279 ; RCV000660320 ; RCV000983821
• dbSNP Id: rs149141477
• ExAC: 3:30713324 G / C
• gnomAD v2: 3-30713324-G-C
• gnomAD v3: 3-30671832-G-C
• gnomAD v4: 3-30671832-G-C
• MyVariant Identifiers: chr3:g.30713324G>C (hg19) ; chr3:g.30671832G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671832G>C , CM000665.2:g.30671832G>C	GRCh38
NC_000003.11:g.30713324G>C , CM000665.1:g.30713324G>C	GRCh37
NC_000003.10:g.30688328G>C	NCBI36
NG_007490.1:g.70331G>C , LRG_779:g.70331G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.649G>C MANE Select	ENSP00000295754.5:p.Ala217Pro
ENST00000672866.1:n.2245G>C
ENST00000295754.9:c.649G>C	ENSP00000295754.5:p.Ala217Pro
ENST00000359013.4:c.724G>C	ENSP00000351905.4:p.Ala242Pro
NM_001024847.2:c.724G>C , LRG_779t1:c.724G>C	NP_001020018.1:p.Ala242Pro
NM_003242.5:c.649G>C	NP_003233.4:p.Ala217Pro
XM_011534043.1:c.676G>C	XP_011532345.1:p.Ala226Pro
XM_011534044.1:c.601G>C	XP_011532346.1:p.Ala201Pro
XM_011534045.1:c.544G>C	XP_011532347.1:p.Ala182Pro
XM_011534043.2:c.676G>C	XP_011532345.1:p.Ala226Pro
XM_011534045.3:c.544G>C	XP_011532347.1:p.Ala182Pro
XM_017007106.1:c.544G>C	XP_016862595.1:p.Ala182Pro
NM_003242.6:c.649G>C MANE Select	NP_003233.4:p.Ala217Pro