Canonical Allele Identifier: CA022921
Gene: DSC2 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31068145T>C
GRCh37 chr18:g.28648111T>C
Revel Score:
ENST00000280904 (MANE Select) 0.747
ENST00000438199 0.747
ENST00000399347 0.747
gnomAD v2:
18:28648111 T / C
gnomAD v3:
18:31068145 T / C
gnomAD v4:
chr18-31068145-T-C
Joint Max Group AF 0.00006616 (AMR)
Genomes Max Group AF 0.00008883 (AMR)
Exomes Max Group AF 0.00002985 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31068145T>C , CM000680.2:g.31068145T>C GRCh38
NC_000018.9:g.28648111T>C , CM000680.1:g.28648111T>C GRCh37
NC_000018.8:g.26902109T>C NCBI36
NG_008208.2:g.39281A>G , LRG_400:g.39281A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.2147A>G ENSP00000507826.1:p.Tyr716Cys
ENST00000251081.8:c.*78A>G ENSP00000251081.6:n.*78A>G
ENST00000280904.11:c.2576A>G MANE Select ENSP00000280904.6:p.Tyr859Cys
ENST00000648081.1:c.2147A>G ENSP00000497441.1:p.Tyr716Cys
ENST00000251081.6:c.*78A>G ENSP00000251081.6:n.*78A>G
ENST00000280904.10:c.2576A>G ENSP00000280904.6:p.Tyr859Cys
NM_004949.4:c.*78A>G NP_004940.1:n.*78A>G
NM_024422.4:c.2576A>G NP_077740.1:p.Tyr859Cys
XM_005258206.3:c.2147A>G XP_005258263.1:p.Tyr716Cys
XM_005258206.4:c.2147A>G XP_005258263.1:p.Tyr716Cys
NM_004949.5:c.*78A>G NP_004940.1:n.*78A>G
NM_024422.6:c.2576A>G MANE Select NP_077740.1:p.Tyr859Cys
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