Canonical Allele Identifier: CA503599262

Gene: DSG2

Linked Data

• dbSNP Id: rs2073151714
• gnomAD v4: 18-31524750-C-T
• MyVariant Identifiers: chr18:g.29104713C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524750C>T , CM000680.2:g.31524750C>T	GRCh38
NC_000018.9:g.29104713C>T , CM000680.1:g.29104713C>T	GRCh37
NC_000018.8:g.27358711C>T	NCBI36
NG_007072.3:g.31509C>T , LRG_397:g.31509C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.707C>T
ENST00000683614.2:n.707C>T
ENST00000682087.1:c.707C>T
ENST00000683614.1:c.707C>T
ENST00000261590.13:c.876C>T MANE Select	ENSP00000261590.8:p.Arg292=
ENST00000261590.12:c.876C>T	ENSP00000261590.8:p.Arg292=
NM_001943.3:c.876C>T , LRG_397t1:c.876C>T	NP_001934.2:p.Arg292=
NM_001943.4:c.876C>T	NP_001934.2:p.Arg292=
XM_024451095.1:c.342C>T	XP_024306863.1:p.Arg114=
NM_001943.5:c.876C>T MANE Select	NP_001934.2:p.Arg292=