Canonical Allele Identifier: CA041859
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 387690
dbSNP Id: rs141175168

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531270G>C , CM000680.2:g.31531270G>C GRCh38
NC_000018.9:g.29111233G>C , CM000680.1:g.29111233G>C GRCh37
NC_000018.8:g.27365231G>C NCBI36
NG_007072.3:g.38029G>C , LRG_397:g.38029G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000683614.2:n.1129G>C
ENST00000683614.1:c.1129G>C
ENST00000261590.13:c.1280+18G>C MANE Select ENSP00000261590.8:n.1280+18G>C
ENST00000261590.12:c.1280+18G>C ENSP00000261590.8:n.1280+18G>C
NM_001943.3:c.1280+18G>C , LRG_397t1:c.1280+18G>C NP_001934.2:n.1280+18G>C
NM_001943.4:c.1280+18G>C NP_001934.2:n.1280+18G>C
XM_024451095.1:c.746+18G>C XP_024306863.1:n.746+18G>C
NM_001943.5:c.1280+18G>C MANE Select NP_001934.2:n.1280+18G>C