Canonical Allele Identifier: CA050165

Gene: DSG2

Linked Data

• dbSNP Id: rs760689391
• ExAC: 18:29104596 T / C
• gnomAD v2: 18-29104596-T-C
• gnomAD v3: 18-31524633-T-C
• gnomAD v4: 18-31524633-T-C
• MyVariant Identifiers: chr18:g.29104596T>C (hg19) ; chr18:g.31524633T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524633T>C , CM000680.2:g.31524633T>C	GRCh38
NC_000018.9:g.29104596T>C , CM000680.1:g.29104596T>C	GRCh37
NC_000018.8:g.27358594T>C	NCBI36
NG_007072.3:g.31392T>C , LRG_397:g.31392T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.659+48T>C
ENST00000683614.2:n.659+48T>C
ENST00000682087.1:c.659+48T>C
ENST00000683614.1:c.659+48T>C
ENST00000261590.13:c.828+48T>C MANE Select	ENSP00000261590.8:n.828+48T>C
ENST00000261590.12:c.828+48T>C	ENSP00000261590.8:n.828+48T>C
NM_001943.3:c.828+48T>C , LRG_397t1:c.828+48T>C	NP_001934.2:n.828+48T>C
NM_001943.4:c.828+48T>C	NP_001934.2:n.828+48T>C
XM_024451095.1:c.294+48T>C	XP_024306863.1:n.294+48T>C
NM_001943.5:c.828+48T>C MANE Select	NP_001934.2:n.828+48T>C