Canonical Allele Identifier: CA16611191

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 408438
• ClinVar RCV Id: RCV000456592
• dbSNP Id: rs1060501984
• MyVariant Identifiers: chr3:g.30732918C>T (hg19) ; chr3:g.30691426C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691426C>T , CM000665.2:g.30691426C>T	GRCh38
NC_000003.11:g.30732918C>T , CM000665.1:g.30732918C>T	GRCh37
NC_000003.10:g.30707922C>T	NCBI36
NG_007490.1:g.89925C>T , LRG_779:g.89925C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1531C>T MANE Select	ENSP00000295754.5:p.Gln511Ter
ENST00000672050.1:n.415C>T
ENST00000672866.1:n.3127C>T
ENST00000673203.1:n.409C>T
ENST00000295754.9:c.1531C>T	ENSP00000295754.5:p.Gln511Ter
ENST00000359013.4:c.1606C>T	ENSP00000351905.4:p.Gln536Ter
NM_001024847.2:c.1606C>T , LRG_779t1:c.1606C>T	NP_001020018.1:p.Gln536Ter
NM_003242.5:c.1531C>T	NP_003233.4:p.Gln511Ter
XM_011534043.1:c.1558C>T	XP_011532345.1:p.Gln520Ter
XM_011534044.1:c.1483C>T	XP_011532346.1:p.Gln495Ter
XM_011534045.1:c.1426C>T	XP_011532347.1:p.Gln476Ter
XM_011534043.2:c.1558C>T	XP_011532345.1:p.Gln520Ter
XM_011534045.3:c.1426C>T	XP_011532347.1:p.Gln476Ter
XM_017007106.1:c.1426C>T	XP_016862595.1:p.Gln476Ter
NM_003242.6:c.1531C>T MANE Select	NP_003233.4:p.Gln511Ter