Canonical Allele Identifier: CA351806800
Gene: TGFBR2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.30650316C>A
GRCh37 chr3:g.30691808C>A
Revel Score:
ENST00000295754 (MANE Select) 0.768
ENST00000359013 0.768
gnomAD v2:
3:30691808 C / A
gnomAD v3:
3:30650316 C / A
gnomAD v4:
chr3-30650316-C-A
Joint Max Group AF 0.00000443 (AFR)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar RCV:
RCV004015707
RCV004371994
ClinVar Variation:
3075181
dbSNP:
193922665
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30650316C>A , CM000665.2:g.30650316C>A GRCh38
NC_000003.11:g.30691808C>A , CM000665.1:g.30691808C>A GRCh37
NC_000003.10:g.30666812C>A NCBI36
NG_007490.1:g.48815C>A , LRG_779:g.48815C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.310C>A MANE Select ENSP00000295754.5:p.Pro104Thr
ENST00000672866.1:n.1906C>A
ENST00000673250.1:n.434C>A
ENST00000295754.9:c.310C>A ENSP00000295754.5:p.Pro104Thr
ENST00000359013.4:c.385C>A ENSP00000351905.4:p.Pro129Thr
NM_001024847.2:c.385C>A , LRG_779t1:c.385C>A NP_001020018.1:p.Pro129Thr
NM_003242.5:c.310C>A NP_003233.4:p.Pro104Thr
XM_011534043.1:c.337C>A XP_011532345.1:p.Pro113Thr
XM_011534044.1:c.262C>A XP_011532346.1:p.Pro88Thr
XM_011534045.1:c.205C>A XP_011532347.1:p.Pro69Thr
XM_011534043.2:c.337C>A XP_011532345.1:p.Pro113Thr
XM_011534045.3:c.205C>A XP_011532347.1:p.Pro69Thr
XM_017007106.1:c.205C>A XP_016862595.1:p.Pro69Thr
NM_003242.6:c.310C>A MANE Select NP_003233.4:p.Pro104Thr
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