Canonical Allele Identifier: CA10609126
Gene: TGFB2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.218442109A>C
GRCh37 chr1:g.218615451A>C
gnomAD v2:
1:218615451 A / C
gnomAD v3:
1:218442109 A / C
gnomAD v4:
chr1-218442109-A-C
Joint Max Group AF 0.69764922 (EAS)
Genomes Max Group AF 0.69764922 (EAS)
ClinVar Allele:
279099
ClinVar RCV:
RCV000357212
ClinVar Variation:
295502
dbSNP:
991967
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218442109A>C , CM000663.2:g.218442109A>C GRCh38
NC_000001.10:g.218615451A>C , CM000663.1:g.218615451A>C GRCh37
NC_000001.9:g.216682074A>C NCBI36
NG_027721.1:g.101776A>C
NG_027721.2:g.101776A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366930.9:c.*747A>C MANE Select ENSP00000355897.4:n.*747A>C
ENST00000366929.4:c.*747A>C ENSP00000355896.4:n.*747A>C
ENST00000366930.8:c.*747A>C ENSP00000355897.4:n.*747A>C
ENST00000479322.1:n.1476A>C
NM_001135599.2:c.*747A>C NP_001129071.1:n.*747A>C
NM_003238.3:c.*747A>C NP_003229.1:n.*747A>C
NM_001135599.3:c.*747A>C NP_001129071.1:n.*747A>C
NM_003238.4:c.*747A>C NP_003229.1:n.*747A>C
NR_138148.1:n.3295A>C
NR_138149.1:n.3379A>C
NM_003238.5:c.*747A>C NP_003229.1:n.*747A>C
NM_003238.6:c.*747A>C MANE Select NP_003229.1:n.*747A>C
NM_001135599.4:c.*747A>C NP_001129071.1:n.*747A>C
NR_138148.2:n.3243A>C
NR_138149.2:n.3327A>C
Search 100 bp 5'
Search 100 bp 3'