Canonical Allele Identifier: CA10609916
Gene: TGFB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 295459
ClinVar RCV Id: RCV000283005
dbSNP Id: rs11466365
gnomAD v2: 1-218519028-C-T
gnomAD v3: 1-218345686-C-T
gnomAD v4: 1-218345686-C-T
MyVariant Identifiers: chr1:g.218519028C>T (hg19) chr1:g.218345686C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218345686C>T , CM000663.2:g.218345686C>T GRCh38
NC_000001.10:g.218519028C>T , CM000663.1:g.218519028C>T GRCh37
NC_000001.9:g.216585651C>T NCBI36
NG_027721.1:g.5353C>T
NG_027721.2:g.5353C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366930.9:c.-1016C>T MANE Select ENSP00000355897.4:n.-1016C>T
NM_001135599.2:c.-1016C>T NP_001129071.1:n.-1016C>T
NM_003238.3:c.-1016C>T NP_003229.1:n.-1016C>T
NM_001135599.3:c.-1016C>T NP_001129071.1:n.-1016C>T
NM_003238.4:c.-1016C>T NP_003229.1:n.-1016C>T
NR_138148.1:n.403C>T
NR_138149.1:n.403C>T
NM_003238.5:c.-1016C>T NP_003229.1:n.-1016C>T
NM_003238.6:c.-1016C>T MANE Select NP_003229.1:n.-1016C>T
NM_001135599.4:c.-1016C>T NP_001129071.1:n.-1016C>T
NR_138148.2:n.351C>T
NR_138149.2:n.351C>T
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