Canonical Allele Identifier: CA297737246

Gene: DSG2

Linked Data

• dbSNP Id: rs895971105
• gnomAD v3: 18-31531426-A-G
• gnomAD v4: 18-31531426-A-G
• MyVariant Identifiers: chr18:g.29111389A>G (hg19) ; chr18:g.31531426A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31531426A>G , CM000680.2:g.31531426A>G	GRCh38
NC_000018.9:g.29111389A>G , CM000680.1:g.29111389A>G	GRCh37
NC_000018.8:g.27365387A>G	NCBI36
NG_007072.3:g.38185A>G , LRG_397:g.38185A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683614.2:n.1285A>G
ENST00000683614.1:c.1285A>G
ENST00000261590.13:c.1280+174A>G MANE Select	ENSP00000261590.8:n.1280+174A>G
ENST00000261590.12:c.1280+174A>G	ENSP00000261590.8:n.1280+174A>G
NM_001943.3:c.1280+174A>G , LRG_397t1:c.1280+174A>G	NP_001934.2:n.1280+174A>G
NM_001943.4:c.1280+174A>G	NP_001934.2:n.1280+174A>G
XM_024451095.1:c.746+174A>G	XP_024306863.1:n.746+174A>G
NM_001943.5:c.1280+174A>G MANE Select	NP_001934.2:n.1280+174A>G