Canonical Allele Identifier: CA344725254
Gene: TGFB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.218520131G>C (hg19) chr1:g.218346789G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218346789G>C , CM000663.2:g.218346789G>C GRCh38
NC_000001.10:g.218520131G>C , CM000663.1:g.218520131G>C GRCh37
NC_000001.9:g.216586754G>C NCBI36
NG_027721.1:g.6456G>C
NG_027721.2:g.6456G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366930.9:c.88G>C MANE Select ENSP00000355897.4:p.Asp30His
ENST00000366929.4:c.88G>C ENSP00000355896.4:p.Asp30His
ENST00000366930.8:c.88G>C ENSP00000355897.4:p.Asp30His
NM_001135599.2:c.88G>C NP_001129071.1:p.Asp30His
NM_003238.3:c.88G>C NP_003229.1:p.Asp30His
NM_001135599.3:c.88G>C NP_001129071.1:p.Asp30His
NM_003238.4:c.88G>C NP_003229.1:p.Asp30His
NR_138148.1:n.1506G>C
NR_138149.1:n.1506G>C
NM_003238.5:c.88G>C NP_003229.1:p.Asp30His
NM_003238.6:c.88G>C MANE Select NP_003229.1:p.Asp30His
NM_001135599.4:c.88G>C NP_001129071.1:p.Asp30His
NR_138148.2:n.1454G>C
NR_138149.2:n.1454G>C
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