Canonical Allele Identifier: CA020734
Gene: TGFBR2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.30691486G>A
GRCh37 chr3:g.30732978G>A
Revel Score:
ENST00000295754 (MANE Select) 0.837
ENST00000359013 0.837
ENST00000439925 0.837
gnomAD v4:
chr3-30691486-G-A
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30691486G>A , CM000665.2:g.30691486G>A GRCh38
NC_000003.11:g.30732978G>A , CM000665.1:g.30732978G>A GRCh37
NC_000003.10:g.30707982G>A NCBI36
NG_007490.1:g.89985G>A , LRG_779:g.89985G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1591G>A MANE Select ENSP00000295754.5:p.Ala531Thr
ENST00000672050.1:n.475G>A
ENST00000672866.1:n.3187G>A
ENST00000673203.1:n.469G>A
ENST00000295754.9:c.1591G>A ENSP00000295754.5:p.Ala531Thr
ENST00000359013.4:c.1666G>A ENSP00000351905.4:p.Ala556Thr
NM_001024847.2:c.1666G>A , LRG_779t1:c.1666G>A NP_001020018.1:p.Ala556Thr
NM_003242.5:c.1591G>A NP_003233.4:p.Ala531Thr
XM_011534043.1:c.1618G>A XP_011532345.1:p.Ala540Thr
XM_011534044.1:c.1543G>A XP_011532346.1:p.Ala515Thr
XM_011534045.1:c.1486G>A XP_011532347.1:p.Ala496Thr
XM_011534043.2:c.1618G>A XP_011532345.1:p.Ala540Thr
XM_011534045.3:c.1486G>A XP_011532347.1:p.Ala496Thr
XM_017007106.1:c.1486G>A XP_016862595.1:p.Ala496Thr
NM_003242.6:c.1591G>A MANE Select NP_003233.4:p.Ala531Thr
Search 100 bp 5'
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