Canonical Allele Identifier: CA2573155224
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1693186
ClinVar RCV Id: RCV002260446
dbSNP Id: rs1295936995
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524700C>A , CM000680.2:g.31524700C>A GRCh38
NC_000018.9:g.29104663C>A , CM000680.1:g.29104663C>A GRCh37
NC_000018.8:g.27358661C>A NCBI36
NG_007072.3:g.31459C>A , LRG_397:g.31459C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.660-3C>A
ENST00000683614.2:n.660-3C>A
ENST00000682087.1:c.660-3C>A
ENST00000683614.1:c.660-3C>A
ENST00000261590.13:c.829-3C>A MANE Select ENSP00000261590.8:n.829-3C>A
ENST00000261590.12:c.829-3C>A ENSP00000261590.8:n.829-3C>A
NM_001943.3:c.829-3C>A , LRG_397t1:c.829-3C>A NP_001934.2:n.829-3C>A
NM_001943.4:c.829-3C>A NP_001934.2:n.829-3C>A
XM_024451095.1:c.295-3C>A XP_024306863.1:n.295-3C>A
NM_001943.5:c.829-3C>A MANE Select NP_001934.2:n.829-3C>A
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