Canonical Allele Identifier: CA10618034
Gene: TGFBR2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.30692458G>A
GRCh37 chr3:g.30733950G>A
gnomAD v3:
3:30692458 G / A
gnomAD v4:
chr3-30692458-G-A
Joint Max Group AF 0.00005838 (NFE)
Genomes Max Group AF 0.00002848 (NFE)
Exomes Max Group AF 0.00006568 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30692458G>A , CM000665.2:g.30692458G>A GRCh38
NC_000003.11:g.30733950G>A , CM000665.1:g.30733950G>A GRCh37
NC_000003.10:g.30708954G>A NCBI36
NG_007490.1:g.90957G>A , LRG_779:g.90957G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.*859G>A MANE Select ENSP00000295754.5:n.*859G>A
ENST00000672866.1:n.4159G>A
ENST00000673203.1:n.1441G>A
ENST00000295754.9:c.*859G>A ENSP00000295754.5:n.*859G>A
ENST00000359013.4:c.*859G>A ENSP00000351905.4:n.*859G>A
NM_001024847.2:c.*859G>A , LRG_779t1:c.*859G>A NP_001020018.1:n.*859G>A
NM_003242.5:c.*859G>A NP_003233.4:n.*859G>A
XM_011534043.1:c.*859G>A XP_011532345.1:n.*859G>A
XM_011534044.1:c.*859G>A XP_011532346.1:n.*859G>A
XM_011534045.1:c.*859G>A XP_011532347.1:n.*859G>A
XM_011534043.2:c.*859G>A XP_011532345.1:n.*859G>A
XM_011534045.3:c.*859G>A XP_011532347.1:n.*859G>A
XM_017007106.1:c.*859G>A XP_016862595.1:n.*859G>A
NM_003242.6:c.*859G>A MANE Select NP_003233.4:n.*859G>A
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