Canonical Allele Identifier: CA045161

Gene: DSG2 DSG2-AS1

Linked Data

• ClinVar Variation Id: 222565
• ClinVar RCV Id: RCV000208116 ; RCV002415876 ; RCV003917852 ; RCV000467261 ; RCV001188678 ; RCV001507400
• dbSNP Id: rs202063433
• ExAC: 18:29122673 A / C
• gnomAD v2: 18-29122673-A-C
• gnomAD v3: 18-31542710-A-C
• gnomAD v4: 18-31542710-A-C
• MyVariant Identifiers: chr18:g.29122673A>C (hg19) ; chr18:g.31542710A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31542710A>C , CM000680.2:g.31542710A>C	GRCh38
NC_000018.9:g.29122673A>C , CM000680.1:g.29122673A>C	GRCh37
NC_000018.8:g.27376671A>C	NCBI36
NG_007072.3:g.49469A>C , LRG_397:g.49469A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.2192A>C (DSG2) MANE Select	ENSP00000261590.8:p.Gln731Pro
ENST00000261590.12:c.2192A>C (DSG2)	ENSP00000261590.8:p.Gln731Pro
NM_001943.3:c.2192A>C , LRG_397t1:c.2192A>C (DSG2)	NP_001934.2:p.Gln731Pro
NR_045216.1:n.1811-389T>G (DSG2-AS1)
NM_001943.4:c.2192A>C (DSG2)	NP_001934.2:p.Gln731Pro
XM_024451095.1:c.1658A>C (DSG2)	XP_024306863.1:p.Gln553Pro
NM_001943.5:c.2192A>C (DSG2) MANE Select	NP_001934.2:p.Gln731Pro