Canonical Allele Identifier: CA629149022

Gene: DSG2

Linked Data

• dbSNP Id: rs1268277139
• gnomAD v2: 18-29121307-T-C
• gnomAD v3: 18-31541344-T-C
• gnomAD v4: 18-31541344-T-C
• MyVariant Identifiers: chr18:g.29121307T>C (hg19) ; chr18:g.31541344T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31541344T>C , CM000680.2:g.31541344T>C	GRCh38
NC_000018.9:g.29121307T>C , CM000680.1:g.29121307T>C	GRCh37
NC_000018.8:g.27375305T>C	NCBI36
NG_007072.3:g.48103T>C , LRG_397:g.48103T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.2001+30T>C MANE Select	ENSP00000261590.8:n.2001+30T>C
ENST00000261590.12:c.2001+30T>C	ENSP00000261590.8:n.2001+30T>C
NM_001943.3:c.2001+30T>C , LRG_397t1:c.2001+30T>C	NP_001934.2:n.2001+30T>C
NM_001943.4:c.2001+30T>C	NP_001934.2:n.2001+30T>C
XM_024451095.1:c.1467+30T>C	XP_024306863.1:n.1467+30T>C
NM_001943.5:c.2001+30T>C MANE Select	NP_001934.2:n.2001+30T>C