Canonical Allele Identifier: CA1398372
Gene: TGFB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3058800
ClinVar RCV Id: RCV003979451
dbSNP Id: rs768388826
ExAC: 1:218520151 G / A
gnomAD v2: 1-218520151-G-A
gnomAD v4: 1-218346809-G-A
COSMIC: COSM5728095 COSM5728096
MyVariant Identifiers: chr1:g.218520151G>A (hg19) chr1:g.218346809G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218346809G>A , CM000663.2:g.218346809G>A GRCh38
NC_000001.10:g.218520151G>A , CM000663.1:g.218520151G>A GRCh37
NC_000001.9:g.216586774G>A NCBI36
NG_027721.1:g.6476G>A
NG_027721.2:g.6476G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366930.9:c.108G>A MANE Select ENSP00000355897.4:p.Arg36=
ENST00000366929.4:c.108G>A ENSP00000355896.4:p.Arg36=
ENST00000366930.8:c.108G>A ENSP00000355897.4:p.Arg36=
NM_001135599.2:c.108G>A NP_001129071.1:p.Arg36=
NM_003238.3:c.108G>A NP_003229.1:p.Arg36=
NM_001135599.3:c.108G>A NP_001129071.1:p.Arg36=
NM_003238.4:c.108G>A NP_003229.1:p.Arg36=
NR_138148.1:n.1526G>A
NR_138149.1:n.1526G>A
NM_003238.5:c.108G>A NP_003229.1:p.Arg36=
NM_003238.6:c.108G>A MANE Select NP_003229.1:p.Arg36=
NM_001135599.4:c.108G>A NP_001129071.1:p.Arg36=
NR_138148.2:n.1474G>A
NR_138149.2:n.1474G>A
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