Canonical Allele Identifier: CA2569486570

Gene: DSC2

Linked Data

• gnomAD v4: 18-31067301-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31067301A>G , CM000680.2:g.31067301A>G	GRCh38
NC_000018.9:g.28647267A>G , CM000680.1:g.28647267A>G	GRCh37
NC_000018.8:g.26901265A>G	NCBI36
NG_008208.2:g.40125T>C , LRG_400:g.40125T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.*714T>C	ENSP00000507826.1:n.*714T>C
ENST00000251081.8:c.*922T>C	ENSP00000251081.6:n.*922T>C
ENST00000280904.11:c.*714T>C MANE Select	ENSP00000280904.6:n.*714T>C
ENST00000648081.1:c.*714T>C	ENSP00000497441.1:n.*714T>C
ENST00000251081.6:c.*922T>C	ENSP00000251081.6:n.*922T>C
ENST00000280904.10:c.*714T>C	ENSP00000280904.6:n.*714T>C
NM_004949.4:c.*922T>C	NP_004940.1:n.*922T>C
NM_024422.4:c.*714T>C	NP_077740.1:n.*714T>C
XM_005258206.3:c.*714T>C	XP_005258263.1:n.*714T>C
XM_005258206.4:c.*714T>C	XP_005258263.1:n.*714T>C
NM_004949.5:c.*922T>C	NP_004940.1:n.*922T>C
NM_024422.6:c.*714T>C MANE Select	NP_077740.1:n.*714T>C