Canonical Allele Identifier: CA050103

Gene: DSG2

Linked Data

• dbSNP Id: rs777205604
• ExAC: 18:29099744 T / C
• gnomAD v2: 18-29099744-T-C
• gnomAD v4: 18-31519781-T-C
• MyVariant Identifiers: chr18:g.29099744T>C (hg19) ; chr18:g.31519781T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31519781T>C , CM000680.2:g.31519781T>C	GRCh38
NC_000018.9:g.29099744T>C , CM000680.1:g.29099744T>C	GRCh37
NC_000018.8:g.27353742T>C	NCBI36
NG_007072.3:g.26540T>C , LRG_397:g.26540T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682241.2:c.82-22T>C	ENSP00000507600.2:n.82-22T>C
ENST00000683654.1:c.82-22T>C	ENSP00000506971.1:n.82-22T>C
ENST00000261590.13:c.82-22T>C MANE Select	ENSP00000261590.8:n.82-22T>C
ENST00000261590.12:c.82-22T>C	ENSP00000261590.8:n.82-22T>C
ENST00000585206.1:c.82-22T>C	ENSP00000462503.1:n.82-22T>C
NM_001943.3:c.82-22T>C , LRG_397t1:c.82-22T>C	NP_001934.2:n.82-22T>C
NM_001943.4:c.82-22T>C	NP_001934.2:n.82-22T>C
XM_024451095.1:c.-453-22T>C	XP_024306863.1:n.-453-22T>C
NM_001943.5:c.82-22T>C MANE Select	NP_001934.2:n.82-22T>C