Canonical Allele Identifier: CA402139702

Gene: DSG2

Linked Data

• dbSNP Id: rs1211574207
• gnomAD v2: 18-29111214-A-T
• gnomAD v4: 18-31531251-A-T
• MyVariant Identifiers: chr18:g.29111214A>T (hg19) ; chr18:g.31531251A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31531251A>T , CM000680.2:g.31531251A>T	GRCh38
NC_000018.9:g.29111214A>T , CM000680.1:g.29111214A>T	GRCh37
NC_000018.8:g.27365212A>T	NCBI36
NG_007072.3:g.38010A>T , LRG_397:g.38010A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683614.2:n.1110A>T
ENST00000683614.1:c.1110A>T
ENST00000261590.13:c.1279A>T MANE Select	ENSP00000261590.8:p.Arg427Ter
ENST00000261590.12:c.1279A>T	ENSP00000261590.8:p.Arg427Ter
NM_001943.3:c.1279A>T , LRG_397t1:c.1279A>T	NP_001934.2:p.Arg427Ter
NM_001943.4:c.1279A>T	NP_001934.2:p.Arg427Ter
XM_024451095.1:c.745A>T	XP_024306863.1:p.Arg249Ter
NM_001943.5:c.1279A>T MANE Select	NP_001934.2:p.Arg427Ter