Canonical Allele Identifier: CA351808160

Gene: TGFBR2

Linked Data

• dbSNP Id: rs2125435085
• gnomAD v4: 3-30672099-C-T
• COSMIC: COSM730356
• MyVariant Identifiers: chr3:g.30713591C>T (hg19) ; chr3:g.30672099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672099C>T , CM000665.2:g.30672099C>T	GRCh38
NC_000003.11:g.30713591C>T , CM000665.1:g.30713591C>T	GRCh37
NC_000003.10:g.30688595C>T	NCBI36
NG_007490.1:g.70598C>T , LRG_779:g.70598C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.916C>T MANE Select	ENSP00000295754.5:p.Gln306Ter
ENST00000672866.1:n.2512C>T
ENST00000295754.9:c.916C>T	ENSP00000295754.5:p.Gln306Ter
ENST00000359013.4:c.991C>T	ENSP00000351905.4:p.Gln331Ter
NM_001024847.2:c.991C>T , LRG_779t1:c.991C>T	NP_001020018.1:p.Gln331Ter
NM_003242.5:c.916C>T	NP_003233.4:p.Gln306Ter
XM_011534043.1:c.943C>T	XP_011532345.1:p.Gln315Ter
XM_011534044.1:c.868C>T	XP_011532346.1:p.Gln290Ter
XM_011534045.1:c.811C>T	XP_011532347.1:p.Gln271Ter
XM_011534043.2:c.943C>T	XP_011532345.1:p.Gln315Ter
XM_011534045.3:c.811C>T	XP_011532347.1:p.Gln271Ter
XM_017007106.1:c.811C>T	XP_016862595.1:p.Gln271Ter
NM_003242.6:c.916C>T MANE Select	NP_003233.4:p.Gln306Ter