Canonical Allele Identifier: CA324920
Gene: TGFB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213834
ClinVar RCV Id: RCV000200359 RCV000358235 RCV000660310 RCV000590091 RCV000769554 RCV002277541
dbSNP Id: rs149215818
ExAC: 1:218520157 G / A
gnomAD v2: 1-218520157-G-A
gnomAD v3: 1-218346815-G-A
gnomAD v4: 1-218346815-G-A
MyVariant Identifiers: chr1:g.218520157G>A (hg19) chr1:g.218346815G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218346815G>A , CM000663.2:g.218346815G>A GRCh38
NC_000001.10:g.218520157G>A , CM000663.1:g.218520157G>A GRCh37
NC_000001.9:g.216586780G>A NCBI36
NG_027721.1:g.6482G>A
NG_027721.2:g.6482G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366930.9:c.114G>A MANE Select ENSP00000355897.4:p.Glu38=
ENST00000366929.4:c.114G>A ENSP00000355896.4:p.Glu38=
ENST00000366930.8:c.114G>A ENSP00000355897.4:p.Glu38=
NM_001135599.2:c.114G>A NP_001129071.1:p.Glu38=
NM_003238.3:c.114G>A NP_003229.1:p.Glu38=
NM_001135599.3:c.114G>A NP_001129071.1:p.Glu38=
NM_003238.4:c.114G>A NP_003229.1:p.Glu38=
NR_138148.1:n.1532G>A
NR_138149.1:n.1532G>A
NM_003238.5:c.114G>A NP_003229.1:p.Glu38=
NM_003238.6:c.114G>A MANE Select NP_003229.1:p.Glu38=
NM_001135599.4:c.114G>A NP_001129071.1:p.Glu38=
NR_138148.2:n.1480G>A
NR_138149.2:n.1480G>A
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