Canonical Allele Identifier: CA351808443

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 522020
• ClinVar RCV Id: RCV000624764
• dbSNP Id: rs1553630221
• MyVariant Identifiers: chr3:g.30713726G>C (hg19) ; chr3:g.30672234G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672234G>C , CM000665.2:g.30672234G>C	GRCh38
NC_000003.11:g.30713726G>C , CM000665.1:g.30713726G>C	GRCh37
NC_000003.10:g.30688730G>C	NCBI36
NG_007490.1:g.70733G>C , LRG_779:g.70733G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1051G>C MANE Select	ENSP00000295754.5:p.Gly351Arg
ENST00000672866.1:n.2647G>C
ENST00000295754.9:c.1051G>C	ENSP00000295754.5:p.Gly351Arg
ENST00000359013.4:c.1126G>C	ENSP00000351905.4:p.Gly376Arg
NM_001024847.2:c.1126G>C , LRG_779t1:c.1126G>C	NP_001020018.1:p.Gly376Arg
NM_003242.5:c.1051G>C	NP_003233.4:p.Gly351Arg
XM_011534043.1:c.1078G>C	XP_011532345.1:p.Gly360Arg
XM_011534044.1:c.1003G>C	XP_011532346.1:p.Gly335Arg
XM_011534045.1:c.946G>C	XP_011532347.1:p.Gly316Arg
XM_011534043.2:c.1078G>C	XP_011532345.1:p.Gly360Arg
XM_011534045.3:c.946G>C	XP_011532347.1:p.Gly316Arg
XM_017007106.1:c.946G>C	XP_016862595.1:p.Gly316Arg
NM_003242.6:c.1051G>C MANE Select	NP_003233.4:p.Gly351Arg