Canonical Allele Identifier: CA402147579

Gene: DSG2 DSG2-AS1

Linked Data

• gnomAD v4: 18-31546354-A-G
• MyVariant Identifiers: chr18:g.29126317A>G (hg19) ; chr18:g.31546354A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546354A>G , CM000680.2:g.31546354A>G	GRCh38
NC_000018.9:g.29126317A>G , CM000680.1:g.29126317A>G	GRCh37
NC_000018.8:g.27380315A>G	NCBI36
NG_007072.3:g.53113A>G , LRG_397:g.53113A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261590.13:c.2968A>G (DSG2) MANE Select	ENSP00000261590.8:p.Arg990Gly
ENST00000261590.12:c.2968A>G (DSG2)	ENSP00000261590.8:p.Arg990Gly
NM_001943.3:c.2968A>G , LRG_397t1:c.2968A>G (DSG2)	NP_001934.2:p.Arg990Gly
NR_045216.1:n.1346-448T>C (DSG2-AS1)
NM_001943.4:c.2968A>G (DSG2)	NP_001934.2:p.Arg990Gly
XM_024451095.1:c.2434A>G (DSG2)	XP_024306863.1:p.Arg812Gly
NM_001943.5:c.2968A>G (DSG2) MANE Select	NP_001934.2:p.Arg990Gly