Canonical Allele Identifier: CA022415
Gene: DSC2 HGNC NCBI
ClinVar RCV:
RCV000181177
RCV001176345
RCV001260409
RCV001301618
RCV002433784
RCV003996607
ClinVar Variation:
199782
dbSNP:
794728075
gnomAD v2:
18:28662344 G / C
gnomAD v4:
chr18-31082378-G-C
Joint Max Group AF 0.00000763 (NFE)
Exomes Max Group AF 0.0000099 (AFR)
MyVariant.info:
GRCh38 chr18:g.31082378G>C
GRCh37 chr18:g.28662344G>C
Revel Score:
ENST00000251081 0.341
ENST00000280904 (MANE Select) 0.341
ENST00000438199 0.341
ENST00000399347 0.341
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31082378G>C , CM000680.2:g.31082378G>C GRCh38
NC_000018.9:g.28662344G>C , CM000680.1:g.28662344G>C GRCh37
NC_000018.8:g.26916342G>C NCBI36
NG_008208.2:g.25048C>G , LRG_400:g.25048C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.694C>G ENSP00000507826.1:p.Arg232Gly
ENST00000251081.8:c.1123C>G ENSP00000251081.6:p.Arg375Gly
ENST00000280904.11:c.1123C>G MANE Select ENSP00000280904.6:p.Arg375Gly
ENST00000648081.1:c.694C>G ENSP00000497441.1:p.Arg232Gly
ENST00000251081.6:c.1123C>G ENSP00000251081.6:p.Arg375Gly
ENST00000280904.10:c.1123C>G ENSP00000280904.6:p.Arg375Gly
NM_004949.4:c.1123C>G NP_004940.1:p.Arg375Gly
NM_024422.4:c.1123C>G NP_077740.1:p.Arg375Gly
XM_005258206.3:c.694C>G XP_005258263.1:p.Arg232Gly
XM_005258206.4:c.694C>G XP_005258263.1:p.Arg232Gly
NM_004949.5:c.1123C>G NP_004940.1:p.Arg375Gly
NM_024422.6:c.1123C>G MANE Select NP_077740.1:p.Arg375Gly
Search 100 bp 5'
Search 100 bp 3'