Canonical Allele Identifier: CA10618396
Gene: TGFBR2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.30692587C>T
GRCh37 chr3:g.30734079C>T
gnomAD v2:
3:30734079 C / T
gnomAD v3:
3:30692587 C / T
gnomAD v4:
chr3-30692587-C-T
Joint Max Group AF 0.01114234 (EAS)
Genomes Max Group AF 0.00271399 (EAS)
Exomes Max Group AF 0.01444956 (EAS)
ClinVar Allele:
294364
ClinVar RCV:
RCV000260051
RCV000319870
RCV000373416
ClinVar Variation:
344688
dbSNP:
138036906
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30692587C>T , CM000665.2:g.30692587C>T GRCh38
NC_000003.11:g.30734079C>T , CM000665.1:g.30734079C>T GRCh37
NC_000003.10:g.30709083C>T NCBI36
NG_007490.1:g.91086C>T , LRG_779:g.91086C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.*988C>T MANE Select ENSP00000295754.5:n.*988C>T
ENST00000672866.1:n.4288C>T
ENST00000673203.1:n.1570C>T
ENST00000295754.9:c.*988C>T ENSP00000295754.5:n.*988C>T
ENST00000359013.4:c.*988C>T ENSP00000351905.4:n.*988C>T
NM_001024847.2:c.*988C>T , LRG_779t1:c.*988C>T NP_001020018.1:n.*988C>T
NM_003242.5:c.*988C>T NP_003233.4:n.*988C>T
XM_011534043.1:c.*988C>T XP_011532345.1:n.*988C>T
XM_011534044.1:c.*988C>T XP_011532346.1:n.*988C>T
XM_011534045.1:c.*988C>T XP_011532347.1:n.*988C>T
XM_011534043.2:c.*988C>T XP_011532345.1:n.*988C>T
XM_011534045.3:c.*988C>T XP_011532347.1:n.*988C>T
XM_017007106.1:c.*988C>T XP_016862595.1:n.*988C>T
NM_003242.6:c.*988C>T MANE Select NP_003233.4:n.*988C>T
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