Canonical Allele Identifier: CA297737175
Gene: DSG2 HGNC NCBI

Linked Data

dbSNP Id: rs1013827714
gnomAD v2: 18-29111268-A-G
gnomAD v3: 18-31531305-A-G
gnomAD v4: 18-31531305-A-G
MyVariant Identifiers: chr18:g.29111268A>G (hg19) chr18:g.31531305A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531305A>G , CM000680.2:g.31531305A>G GRCh38
NC_000018.9:g.29111268A>G , CM000680.1:g.29111268A>G GRCh37
NC_000018.8:g.27365266A>G NCBI36
NG_007072.3:g.38064A>G , LRG_397:g.38064A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000683614.2:n.1164A>G
ENST00000683614.1:c.1164A>G
ENST00000261590.13:c.1280+53A>G MANE Select ENSP00000261590.8:n.1280+53A>G
ENST00000261590.12:c.1280+53A>G ENSP00000261590.8:n.1280+53A>G
NM_001943.3:c.1280+53A>G , LRG_397t1:c.1280+53A>G NP_001934.2:n.1280+53A>G
NM_001943.4:c.1280+53A>G NP_001934.2:n.1280+53A>G
XM_024451095.1:c.746+53A>G XP_024306863.1:n.746+53A>G
NM_001943.5:c.1280+53A>G MANE Select NP_001934.2:n.1280+53A>G
Search 100 bp 5'
Search 100 bp 3'