Canonical Allele Identifier: CA020563
Gene: TGFBR2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.30672168G>A
GRCh37 chr3:g.30713660G>A
Revel Score:
ENST00000295754 (MANE Select) 0.590
ENST00000359013 0.590
ENST00000439925 0.590
gnomAD v2:
3:30713660 G / A
gnomAD v3:
3:30672168 G / A
gnomAD v4:
chr3-30672168-G-A
Joint Max Group AF 0.00003774 (NFE)
Exomes Max Group AF 0.00003977 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672168G>A , CM000665.2:g.30672168G>A GRCh38
NC_000003.11:g.30713660G>A , CM000665.1:g.30713660G>A GRCh37
NC_000003.10:g.30688664G>A NCBI36
NG_007490.1:g.70667G>A , LRG_779:g.70667G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.985G>A MANE Select ENSP00000295754.5:p.Ala329Thr
ENST00000672866.1:n.2581G>A
ENST00000295754.9:c.985G>A ENSP00000295754.5:p.Ala329Thr
ENST00000359013.4:c.1060G>A ENSP00000351905.4:p.Ala354Thr
NM_001024847.2:c.1060G>A , LRG_779t1:c.1060G>A NP_001020018.1:p.Ala354Thr
NM_003242.5:c.985G>A NP_003233.4:p.Ala329Thr
XM_011534043.1:c.1012G>A XP_011532345.1:p.Ala338Thr
XM_011534044.1:c.937G>A XP_011532346.1:p.Ala313Thr
XM_011534045.1:c.880G>A XP_011532347.1:p.Ala294Thr
XM_011534043.2:c.1012G>A XP_011532345.1:p.Ala338Thr
XM_011534045.3:c.880G>A XP_011532347.1:p.Ala294Thr
XM_017007106.1:c.880G>A XP_016862595.1:p.Ala294Thr
NM_003242.6:c.985G>A MANE Select NP_003233.4:p.Ala329Thr
Search 100 bp 5'
Search 100 bp 3'