Canonical Allele Identifier: CA10609966
Gene: TGFB2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.218441563A>T
GRCh37 chr1:g.218614905A>T
gnomAD v2:
1:218614905 A / T
gnomAD v3:
1:218441563 A / T
gnomAD v4:
chr1-218441563-A-T
Joint Max Group AF 0.701644 (EAS)
Genomes Max Group AF 0.68452166 (EAS)
Exomes Max Group AF 0.70219298 (EAS)
ClinVar Allele:
280581
ClinVar RCV:
RCV000301723
RCV001683182
ClinVar Variation:
295498
dbSNP:
900
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218441563A>T , CM000663.2:g.218441563A>T GRCh38
NC_000001.10:g.218614905A>T , CM000663.1:g.218614905A>T GRCh37
NC_000001.9:g.216681528A>T NCBI36
NG_027721.1:g.101230A>T
NG_027721.2:g.101230A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366930.9:c.*201A>T MANE Select ENSP00000355897.4:n.*201A>T
ENST00000366929.4:c.*201A>T ENSP00000355896.4:n.*201A>T
ENST00000366930.8:c.*201A>T ENSP00000355897.4:n.*201A>T
ENST00000479322.1:n.930A>T
NM_001135599.2:c.*201A>T NP_001129071.1:n.*201A>T
NM_003238.3:c.*201A>T NP_003229.1:n.*201A>T
NM_001135599.3:c.*201A>T NP_001129071.1:n.*201A>T
NM_003238.4:c.*201A>T NP_003229.1:n.*201A>T
NR_138148.1:n.2749A>T
NR_138149.1:n.2833A>T
NM_003238.5:c.*201A>T NP_003229.1:n.*201A>T
NM_003238.6:c.*201A>T MANE Select NP_003229.1:n.*201A>T
NM_001135599.4:c.*201A>T NP_001129071.1:n.*201A>T
NR_138148.2:n.2697A>T
NR_138149.2:n.2781A>T
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