Canonical Allele Identifier: CA629148145

Gene: DSG2

Linked Data

• dbSNP Id: rs1260162415
• gnomAD v2: 18-29104595-G-T
• gnomAD v3: 18-31524632-G-T
• gnomAD v4: 18-31524632-G-T
• MyVariant Identifiers: chr18:g.29104595G>T (hg19) ; chr18:g.31524632G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524632G>T , CM000680.2:g.31524632G>T	GRCh38
NC_000018.9:g.29104595G>T , CM000680.1:g.29104595G>T	GRCh37
NC_000018.8:g.27358593G>T	NCBI36
NG_007072.3:g.31391G>T , LRG_397:g.31391G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.659+47G>T
ENST00000683614.2:n.659+47G>T
ENST00000682087.1:c.659+47G>T
ENST00000683614.1:c.659+47G>T
ENST00000261590.13:c.828+47G>T MANE Select	ENSP00000261590.8:n.828+47G>T
ENST00000261590.12:c.828+47G>T	ENSP00000261590.8:n.828+47G>T
NM_001943.3:c.828+47G>T , LRG_397t1:c.828+47G>T	NP_001934.2:n.828+47G>T
NM_001943.4:c.828+47G>T	NP_001934.2:n.828+47G>T
XM_024451095.1:c.294+47G>T	XP_024306863.1:n.294+47G>T
NM_001943.5:c.828+47G>T MANE Select	NP_001934.2:n.828+47G>T