Canonical Allele Identifier: CA2811993234
Gene: DSC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31089148A>T , CM000680.2:g.31089148A>T GRCh38
NC_000018.9:g.28669111A>T , CM000680.1:g.28669111A>T GRCh37
NC_000018.8:g.26923109A>T NCBI36
NG_008208.2:g.18278T>A , LRG_400:g.18278T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.201+291T>A ENSP00000507826.1:n.201+291T>A
ENST00000251081.8:c.630+291T>A ENSP00000251081.6:n.630+291T>A
ENST00000280904.11:c.630+291T>A MANE Select ENSP00000280904.6:n.630+291T>A
ENST00000648081.1:c.201+291T>A ENSP00000497441.1:n.201+291T>A
ENST00000251081.6:c.630+291T>A ENSP00000251081.6:n.630+291T>A
ENST00000280904.10:c.630+291T>A ENSP00000280904.6:n.630+291T>A
NM_004949.4:c.630+291T>A NP_004940.1:n.630+291T>A
NM_024422.4:c.630+291T>A NP_077740.1:n.630+291T>A
XM_005258206.3:c.201+291T>A XP_005258263.1:n.201+291T>A
XM_005258206.4:c.201+291T>A XP_005258263.1:n.201+291T>A
NM_004949.5:c.630+291T>A NP_004940.1:n.630+291T>A
NM_024422.6:c.630+291T>A MANE Select NP_077740.1:n.630+291T>A
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