Canonical Allele Identifier: CA040375
Gene: DSC2 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31086648T>C
GRCh37 chr18:g.28666611T>C
gnomAD v2:
18:28666611 T / C
gnomAD v3:
18:31086648 T / C
gnomAD v4:
chr18-31086648-T-C
Joint Max Group AF 0.00008424 (NFE)
Genomes Max Group AF 0.00004764 (NFE)
Exomes Max Group AF 0.00008389 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31086648T>C , CM000680.2:g.31086648T>C GRCh38
NC_000018.9:g.28666611T>C , CM000680.1:g.28666611T>C GRCh37
NC_000018.8:g.26920609T>C NCBI36
NG_008208.2:g.20778A>G , LRG_400:g.20778A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.441A>G ENSP00000507826.1:p.Pro147=
ENST00000251081.8:c.870A>G ENSP00000251081.6:p.Pro290=
ENST00000280904.11:c.870A>G MANE Select ENSP00000280904.6:p.Pro290=
ENST00000648081.1:c.441A>G ENSP00000497441.1:p.Pro147=
ENST00000251081.6:c.870A>G ENSP00000251081.6:p.Pro290=
ENST00000280904.10:c.870A>G ENSP00000280904.6:p.Pro290=
NM_004949.4:c.870A>G NP_004940.1:p.Pro290=
NM_024422.4:c.870A>G NP_077740.1:p.Pro290=
XM_005258206.3:c.441A>G XP_005258263.1:p.Pro147=
XM_005258206.4:c.441A>G XP_005258263.1:p.Pro147=
NM_004949.5:c.870A>G NP_004940.1:p.Pro290=
NM_024422.6:c.870A>G MANE Select NP_077740.1:p.Pro290=
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