Canonical Allele Identifier: CA022029
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 44312
ClinVar RCV Id: RCV000037300 RCV000247536 RCV000769523 RCV001083740
dbSNP Id: rs11542379
ExAC: 18:29126592 C / T
gnomAD v2: 18-29126592-C-T
gnomAD v3: 18-31546629-C-T
gnomAD v4: 18-31546629-C-T
MyVariant Identifiers: chr18:g.29126592C>T (hg19) chr18:g.31546629C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546629C>T , CM000680.2:g.31546629C>T GRCh38
NC_000018.9:g.29126592C>T , CM000680.1:g.29126592C>T GRCh37
NC_000018.8:g.27380590C>T NCBI36
NG_007072.3:g.53388C>T , LRG_397:g.53388C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.3243C>T (DSG2) MANE Select ENSP00000261590.8:p.Val1081=
ENST00000261590.12:c.3243C>T (DSG2) ENSP00000261590.8:p.Val1081=
NM_001943.3:c.3243C>T , LRG_397t1:c.3243C>T (DSG2) NP_001934.2:p.Val1081=
NR_045216.1:n.1346-723G>A (DSG2-AS1)
NM_001943.4:c.3243C>T (DSG2) NP_001934.2:p.Val1081=
XM_024451095.1:c.2709C>T (DSG2) XP_024306863.1:p.Val903=
NM_001943.5:c.3243C>T (DSG2) MANE Select NP_001934.2:p.Val1081=
Search 100 bp 5'
Search 100 bp 3'