Canonical Allele Identifier: CA1398688
Gene: TGFB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 520200
ClinVar RCV Id: RCV000624548 RCV002274072 RCV002315241 RCV002483736
dbSNP Id: rs376159002
ExAC: 1:218614600 G / A
gnomAD v2: 1-218614600-G-A
gnomAD v3: 1-218441258-G-A
gnomAD v4: 1-218441258-G-A
COSMIC: COSM4028318 COSM4028319
MyVariant Identifiers: chr1:g.218614600G>A (hg19) chr1:g.218441258G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218441258G>A , CM000663.2:g.218441258G>A GRCh38
NC_000001.10:g.218614600G>A , CM000663.1:g.218614600G>A GRCh37
NC_000001.9:g.216681223G>A NCBI36
NG_027721.1:g.100925G>A
NG_027721.2:g.100925G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366930.9:c.1141G>A MANE Select ENSP00000355897.4:p.Val381Met
ENST00000366929.4:c.1225G>A ENSP00000355896.4:p.Val409Met
ENST00000366930.8:c.1141G>A ENSP00000355897.4:p.Val381Met
ENST00000479322.1:n.625G>A
NM_001135599.2:c.1225G>A NP_001129071.1:p.Val409Met
NM_003238.3:c.1141G>A NP_003229.1:p.Val381Met
NM_001135599.3:c.1225G>A NP_001129071.1:p.Val409Met
NM_003238.4:c.1141G>A NP_003229.1:p.Val381Met
NR_138148.1:n.2444G>A
NR_138149.1:n.2528G>A
NM_003238.5:c.1141G>A NP_003229.1:p.Val381Met
NM_003238.6:c.1141G>A MANE Select NP_003229.1:p.Val381Met
NM_001135599.4:c.1225G>A NP_001129071.1:p.Val409Met
NR_138148.2:n.2392G>A
NR_138149.2:n.2476G>A
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