Canonical Allele Identifier: CA402147152

Gene: DSG2 DSG2-AS1

Linked Data

• ClinVar Variation Id: 919394
• ClinVar RCV Id: RCV001177542 ; RCV003769908
• dbSNP Id: rs1397270448
• gnomAD v2: 18-29126210-G-A
• gnomAD v4: 18-31546247-G-A
• MyVariant Identifiers: chr18:g.29126210G>A (hg19) ; chr18:g.31546247G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546247G>A , CM000680.2:g.31546247G>A	GRCh38
NC_000018.9:g.29126210G>A , CM000680.1:g.29126210G>A	GRCh37
NC_000018.8:g.27380208G>A	NCBI36
NG_007072.3:g.53006G>A , LRG_397:g.53006G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261590.13:c.2861G>A (DSG2) MANE Select	ENSP00000261590.8:p.Gly954Asp
ENST00000261590.12:c.2861G>A (DSG2)	ENSP00000261590.8:p.Gly954Asp
NM_001943.3:c.2861G>A , LRG_397t1:c.2861G>A (DSG2)	NP_001934.2:p.Gly954Asp
NR_045216.1:n.1346-341C>T (DSG2-AS1)
NM_001943.4:c.2861G>A (DSG2)	NP_001934.2:p.Gly954Asp
XM_024451095.1:c.2327G>A (DSG2)	XP_024306863.1:p.Gly776Asp
NM_001943.5:c.2861G>A (DSG2) MANE Select	NP_001934.2:p.Gly954Asp