Canonical Allele Identifier: CA322630

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 213927
• ClinVar RCV Id: RCV000198137 ; RCV002408874
• dbSNP Id: rs863223847
• MyVariant Identifiers: chr3:g.30715597G>T (hg19) ; chr3:g.30674105G>T (hg38)
• PubMed: PMID:28679693

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674105G>T , CM000665.2:g.30674105G>T	GRCh38
NC_000003.11:g.30715597G>T , CM000665.1:g.30715597G>T	GRCh37
NC_000003.10:g.30690601G>T	NCBI36
NG_007490.1:g.72604G>T , LRG_779:g.72604G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1255G>T MANE Select	ENSP00000295754.5:p.Val419Leu
ENST00000672866.1:n.2851G>T
ENST00000673203.1:n.133G>T
ENST00000295754.9:c.1255G>T	ENSP00000295754.5:p.Val419Leu
ENST00000359013.4:c.1330G>T	ENSP00000351905.4:p.Val444Leu
NM_001024847.2:c.1330G>T , LRG_779t1:c.1330G>T	NP_001020018.1:p.Val444Leu
NM_003242.5:c.1255G>T	NP_003233.4:p.Val419Leu
XM_011534043.1:c.1282G>T	XP_011532345.1:p.Val428Leu
XM_011534044.1:c.1207G>T	XP_011532346.1:p.Val403Leu
XM_011534045.1:c.1150G>T	XP_011532347.1:p.Val384Leu
XM_011534043.2:c.1282G>T	XP_011532345.1:p.Val428Leu
XM_011534045.3:c.1150G>T	XP_011532347.1:p.Val384Leu
XM_017007106.1:c.1150G>T	XP_016862595.1:p.Val384Leu
NM_003242.6:c.1255G>T MANE Select	NP_003233.4:p.Val419Leu