Canonical Allele Identifier: CA297730003

Gene: DSG2

Linked Data

• dbSNP Id: rs535646295
• gnomAD v4: 18-31522159-C-T
• COSMIC: COSM987619
• MyVariant Identifiers: chr18:g.29102122C>T (hg19) ; chr18:g.31522159C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522159C>T , CM000680.2:g.31522159C>T	GRCh38
NC_000018.9:g.29102122C>T , CM000680.1:g.29102122C>T	GRCh37
NC_000018.8:g.27356120C>T	NCBI36
NG_007072.3:g.28918C>T , LRG_397:g.28918C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.431C>T
ENST00000682241.2:c.600C>T	ENSP00000507600.2:p.Ile200=
ENST00000683614.2:n.431C>T
ENST00000682087.1:c.431C>T
ENST00000682241.1:c.431C>T
ENST00000683614.1:c.431C>T
ENST00000683654.1:c.600C>T	ENSP00000506971.1:p.Ile200=
ENST00000684461.1:n.1270C>T
ENST00000261590.13:c.600C>T MANE Select	ENSP00000261590.8:p.Ile200=
ENST00000261590.12:c.600C>T	ENSP00000261590.8:p.Ile200=
ENST00000585206.1:c.600C>T	ENSP00000462503.1:p.Ile200=
NM_001943.3:c.600C>T , LRG_397t1:c.600C>T	NP_001934.2:p.Ile200=
NM_001943.4:c.600C>T	NP_001934.2:p.Ile200=
XM_024451095.1:c.66C>T	XP_024306863.1:p.Ile22=
NM_001943.5:c.600C>T MANE Select	NP_001934.2:p.Ile200=