Canonical Allele Identifier: CA16604494
Gene: TGFBR2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.30672246G>A
GRCh37 chr3:g.30713738G>A
Revel Score:
ENST00000295754 (MANE Select) 0.794
ENST00000359013 0.794
ENST00000439925 0.794
gnomAD v2:
3:30713738 G / A
gnomAD v3:
3:30672246 G / A
gnomAD v4:
chr3-30672246-G-A
Joint Max Group AF 0.00000556 (AMR)
Genomes Max Group AF 0.0000226 (AMR)
Exomes Max Group AF 0.00000195 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672246G>A , CM000665.2:g.30672246G>A GRCh38
NC_000003.11:g.30713738G>A , CM000665.1:g.30713738G>A GRCh37
NC_000003.10:g.30688742G>A NCBI36
NG_007490.1:g.70745G>A , LRG_779:g.70745G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1063G>A MANE Select ENSP00000295754.5:p.Ala355Thr
ENST00000672866.1:n.2659G>A
ENST00000295754.9:c.1063G>A ENSP00000295754.5:p.Ala355Thr
ENST00000359013.4:c.1138G>A ENSP00000351905.4:p.Ala380Thr
NM_001024847.2:c.1138G>A , LRG_779t1:c.1138G>A NP_001020018.1:p.Ala380Thr
NM_003242.5:c.1063G>A NP_003233.4:p.Ala355Thr
XM_011534043.1:c.1090G>A XP_011532345.1:p.Ala364Thr
XM_011534044.1:c.1015G>A XP_011532346.1:p.Ala339Thr
XM_011534045.1:c.958G>A XP_011532347.1:p.Ala320Thr
XM_011534043.2:c.1090G>A XP_011532345.1:p.Ala364Thr
XM_011534045.3:c.958G>A XP_011532347.1:p.Ala320Thr
XM_017007106.1:c.958G>A XP_016862595.1:p.Ala320Thr
NM_003242.6:c.1063G>A MANE Select NP_003233.4:p.Ala355Thr
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