Canonical Allele Identifier: CA032446

Gene: DSC2

Linked Data

• ClinVar Variation Id: 536278
• ClinVar RCV Id: RCV001187680 ; RCV001637112 ; RCV002397244
• dbSNP Id: rs145987522
• ExAC: 18:28659838 A / G
• gnomAD v2: 18-28659838-A-G
• gnomAD v3: 18-31079872-A-G
• gnomAD v4: 18-31079872-A-G
• MyVariant Identifiers: chr18:g.28659838A>G (hg19) ; chr18:g.31079872A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31079872A>G , CM000680.2:g.31079872A>G	GRCh38
NC_000018.9:g.28659838A>G , CM000680.1:g.28659838A>G	GRCh37
NC_000018.8:g.26913836A>G	NCBI36
NG_008208.2:g.27554T>C , LRG_400:g.27554T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682357.1:c.1209T>C	ENSP00000507826.1:p.Asn403=
ENST00000251081.8:c.1638T>C	ENSP00000251081.6:p.Asn546=
ENST00000280904.11:c.1638T>C MANE Select	ENSP00000280904.6:p.Asn546=
ENST00000648081.1:c.1209T>C	ENSP00000497441.1:p.Asn403=
ENST00000251081.6:c.1638T>C	ENSP00000251081.6:p.Asn546=
ENST00000280904.10:c.1638T>C	ENSP00000280904.6:p.Asn546=
NM_004949.4:c.1638T>C	NP_004940.1:p.Asn546=
NM_024422.4:c.1638T>C	NP_077740.1:p.Asn546=
XM_005258206.3:c.1209T>C	XP_005258263.1:p.Asn403=
XM_005258206.4:c.1209T>C	XP_005258263.1:p.Asn403=
NM_004949.5:c.1638T>C	NP_004940.1:p.Asn546=
NM_024422.6:c.1638T>C MANE Select	NP_077740.1:p.Asn546=