Canonical Allele Identifier: CA2293654774
Gene: DSC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31089167A= , CM000680.2:g.31089167A= GRCh38
NC_000018.9:g.28669130A= , CM000680.1:g.28669130A= GRCh37
NC_000018.8:g.26923128A= NCBI36
NG_008208.2:g.18259T= , LRG_400:g.18259T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.201+272T= ENSP00000507826.1:n.201+272T=
ENST00000251081.8:c.630+272T= ENSP00000251081.6:n.630+272T=
ENST00000280904.11:c.630+272T= MANE Select ENSP00000280904.6:n.630+272T=
ENST00000648081.1:c.201+272T= ENSP00000497441.1:n.201+272T=
ENST00000251081.6:c.630+272T= ENSP00000251081.6:n.630+272T=
ENST00000280904.10:c.630+272T= ENSP00000280904.6:n.630+272T=
NM_004949.4:c.630+272T= NP_004940.1:n.630+272T=
NM_024422.4:c.630+272T= NP_077740.1:n.630+272T=
XM_005258206.3:c.201+272T= XP_005258263.1:n.201+272T=
XM_005258206.4:c.201+272T= XP_005258263.1:n.201+272T=
NM_004949.5:c.630+272T= NP_004940.1:n.630+272T=
NM_024422.6:c.630+272T= MANE Select NP_077740.1:n.630+272T=
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