Canonical Allele Identifier: CA047567

Gene: DSG2 DSG2-AS1

Linked Data

• ClinVar Variation Id: 426977
• ClinVar RCV Id: RCV000489811 ; RCV001184490
• dbSNP Id: rs749540432
• ExAC: 18:29126302 G / A
• gnomAD v2: 18-29126302-G-A
• gnomAD v3: 18-31546339-G-A
• gnomAD v4: 18-31546339-G-A
• MyVariant Identifiers: chr18:g.29126302G>A (hg19) ; chr18:g.29126302_29126303delinsAT (hg19) ; chr18:g.31546339G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546339G>A , CM000680.2:g.31546339G>A	GRCh38
NC_000018.9:g.29126302G>A , CM000680.1:g.29126302G>A	GRCh37
NC_000018.8:g.27380300G>A	NCBI36
NG_007072.3:g.53098G>A , LRG_397:g.53098G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261590.13:c.2953G>A (DSG2) MANE Select	ENSP00000261590.8:p.Val985Ile
ENST00000261590.12:c.2953G>A (DSG2)	ENSP00000261590.8:p.Val985Ile
NM_001943.3:c.2953G>A , LRG_397t1:c.2953G>A (DSG2)	NP_001934.2:p.Val985Ile
NR_045216.1:n.1346-433C>T (DSG2-AS1)
NM_001943.4:c.2953G>A (DSG2)	NP_001934.2:p.Val985Ile
XM_024451095.1:c.2419G>A (DSG2)	XP_024306863.1:p.Val807Ile
NM_001943.5:c.2953G>A (DSG2) MANE Select	NP_001934.2:p.Val985Ile