Canonical Allele Identifier: CA16042310
Gene: TGFB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372857
ClinVar RCV Id: RCV000413467
dbSNP Id: rs1057518029
MyVariant Identifiers: chr1:g.218607678A>G (hg19) chr1:g.218434336A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218434336A>G , CM000663.2:g.218434336A>G GRCh38
NC_000001.10:g.218607678A>G , CM000663.1:g.218607678A>G GRCh37
NC_000001.9:g.216674301A>G NCBI36
NG_027721.1:g.94003A>G
NG_027721.2:g.94003A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366930.9:c.644-2A>G MANE Select ENSP00000355897.4:n.644-2A>G
ENST00000366929.4:c.728-2A>G ENSP00000355896.4:n.728-2A>G
ENST00000366930.8:c.644-2A>G ENSP00000355897.4:n.644-2A>G
ENST00000479322.1:n.128-2A>G
NM_001135599.2:c.728-2A>G NP_001129071.1:n.728-2A>G
NM_003238.3:c.644-2A>G NP_003229.1:n.644-2A>G
NM_001135599.3:c.728-2A>G NP_001129071.1:n.728-2A>G
NM_003238.4:c.644-2A>G NP_003229.1:n.644-2A>G
NR_138148.1:n.2062-2A>G
NR_138149.1:n.2146-2A>G
NM_003238.5:c.644-2A>G NP_003229.1:n.644-2A>G
NM_003238.6:c.644-2A>G MANE Select NP_003229.1:n.644-2A>G
NM_001135599.4:c.728-2A>G NP_001129071.1:n.728-2A>G
NR_138148.2:n.2010-2A>G
NR_138149.2:n.2094-2A>G
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