Canonical Allele Identifier: CA2641388055
Gene: DSC2 HGNC NCBI

Linked Data

gnomAD v4: 18-31070663-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31070663G>T , CM000680.2:g.31070663G>T GRCh38
NC_000018.9:g.28650629G>T , CM000680.1:g.28650629G>T GRCh37
NC_000018.8:g.26904627G>T NCBI36
NG_008208.2:g.36763C>A , LRG_400:g.36763C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682357.1:c.1821+63C>A ENSP00000507826.1:n.1821+63C>A
ENST00000251081.8:c.2250+63C>A ENSP00000251081.6:n.2250+63C>A
ENST00000280904.11:c.2250+63C>A MANE Select ENSP00000280904.6:n.2250+63C>A
ENST00000648081.1:c.1821+63C>A ENSP00000497441.1:n.1821+63C>A
ENST00000251081.6:c.2250+63C>A ENSP00000251081.6:n.2250+63C>A
ENST00000280904.10:c.2250+63C>A ENSP00000280904.6:n.2250+63C>A
NM_004949.4:c.2250+63C>A NP_004940.1:n.2250+63C>A
NM_024422.4:c.2250+63C>A NP_077740.1:n.2250+63C>A
XM_005258206.3:c.1821+63C>A XP_005258263.1:n.1821+63C>A
XM_005258206.4:c.1821+63C>A XP_005258263.1:n.1821+63C>A
NM_004949.5:c.2250+63C>A NP_004940.1:n.2250+63C>A
NM_024422.6:c.2250+63C>A MANE Select NP_077740.1:n.2250+63C>A
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