Canonical Allele Identifier: CA16620673
Gene: DSC2 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31083061C>T
GRCh37 chr18:g.28663027C>T
gnomAD v3:
18:31083061 C / T
gnomAD v4:
chr18-31083061-C-T
Joint Max Group AF 0.00000247 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31083061C>T , CM000680.2:g.31083061C>T GRCh38
NC_000018.9:g.28663027C>T , CM000680.1:g.28663027C>T GRCh37
NC_000018.8:g.26917025C>T NCBI36
NG_008208.2:g.24365G>A , LRG_400:g.24365G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.514-1G>A ENSP00000507826.1:n.514-1G>A
ENST00000251081.8:c.943-1G>A ENSP00000251081.6:n.943-1G>A
ENST00000280904.11:c.943-1G>A MANE Select ENSP00000280904.6:n.943-1G>A
ENST00000648081.1:c.514-1G>A ENSP00000497441.1:n.514-1G>A
ENST00000251081.6:c.943-1G>A ENSP00000251081.6:n.943-1G>A
ENST00000280904.10:c.943-1G>A ENSP00000280904.6:n.943-1G>A
NM_004949.4:c.943-1G>A NP_004940.1:n.943-1G>A
NM_024422.4:c.943-1G>A NP_077740.1:n.943-1G>A
XM_005258206.3:c.514-1G>A XP_005258263.1:n.514-1G>A
XM_005258206.4:c.514-1G>A XP_005258263.1:n.514-1G>A
NM_004949.5:c.943-1G>A NP_004940.1:n.943-1G>A
NM_024422.6:c.943-1G>A MANE Select NP_077740.1:n.943-1G>A
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