Canonical Allele Identifier: CA040141
Gene: DSC2 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31086694G>A
GRCh37 chr18:g.28666657G>A
Revel Score:
ENST00000251081 0.447
ENST00000280904 (MANE Select) 0.447
ENST00000438199 0.447
ENST00000399347 0.447
gnomAD v2:
18:28666657 G / A
gnomAD v3:
18:31086694 G / A
gnomAD v4:
chr18-31086694-G-A
Joint Max Group AF 0.00001425 (SAS)
Genomes Max Group AF 0.00007299 (SAS)
Exomes Max Group AF 0.00000989 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31086694G>A , CM000680.2:g.31086694G>A GRCh38
NC_000018.9:g.28666657G>A , CM000680.1:g.28666657G>A GRCh37
NC_000018.8:g.26920655G>A NCBI36
NG_008208.2:g.20732C>T , LRG_400:g.20732C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.395C>T ENSP00000507826.1:p.Thr132Met
ENST00000251081.8:c.824C>T ENSP00000251081.6:p.Thr275Met
ENST00000280904.11:c.824C>T MANE Select ENSP00000280904.6:p.Thr275Met
ENST00000648081.1:c.395C>T ENSP00000497441.1:p.Thr132Met
ENST00000251081.6:c.824C>T ENSP00000251081.6:p.Thr275Met
ENST00000280904.10:c.824C>T ENSP00000280904.6:p.Thr275Met
NM_004949.4:c.824C>T NP_004940.1:p.Thr275Met
NM_024422.4:c.824C>T NP_077740.1:p.Thr275Met
XM_005258206.3:c.395C>T XP_005258263.1:p.Thr132Met
XM_005258206.4:c.395C>T XP_005258263.1:p.Thr132Met
NM_004949.5:c.824C>T NP_004940.1:p.Thr275Met
NM_024422.6:c.824C>T MANE Select NP_077740.1:p.Thr275Met
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