Canonical Allele Identifier: CA344725344
Gene: TGFB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.218520170C>A (hg19) chr1:g.218346828C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218346828C>A , CM000663.2:g.218346828C>A GRCh38
NC_000001.10:g.218520170C>A , CM000663.1:g.218520170C>A GRCh37
NC_000001.9:g.216586793C>A NCBI36
NG_027721.1:g.6495C>A
NG_027721.2:g.6495C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366930.9:c.127C>A MANE Select ENSP00000355897.4:p.Gln43Lys
ENST00000366929.4:c.127C>A ENSP00000355896.4:p.Gln43Lys
ENST00000366930.8:c.127C>A ENSP00000355897.4:p.Gln43Lys
NM_001135599.2:c.127C>A NP_001129071.1:p.Gln43Lys
NM_003238.3:c.127C>A NP_003229.1:p.Gln43Lys
NM_001135599.3:c.127C>A NP_001129071.1:p.Gln43Lys
NM_003238.4:c.127C>A NP_003229.1:p.Gln43Lys
NR_138148.1:n.1545C>A
NR_138149.1:n.1545C>A
NM_003238.5:c.127C>A NP_003229.1:p.Gln43Lys
NM_003238.6:c.127C>A MANE Select NP_003229.1:p.Gln43Lys
NM_001135599.4:c.127C>A NP_001129071.1:p.Gln43Lys
NR_138148.2:n.1493C>A
NR_138149.2:n.1493C>A
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