Canonical Allele Identifier: CA047038
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3017463
ClinVar RCV Id: RCV003871582
dbSNP Id: rs747507183
ExAC: 18:29126086 T / C
gnomAD v2: 18-29126086-T-C
gnomAD v4: 18-31546123-T-C
MyVariant Identifiers: chr18:g.29126086T>C (hg19) chr18:g.31546123T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546123T>C , CM000680.2:g.31546123T>C GRCh38
NC_000018.9:g.29126086T>C , CM000680.1:g.29126086T>C GRCh37
NC_000018.8:g.27380084T>C NCBI36
NG_007072.3:g.52882T>C , LRG_397:g.52882T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2737T>C (DSG2) MANE Select ENSP00000261590.8:p.Ser913Pro
ENST00000261590.12:c.2737T>C (DSG2) ENSP00000261590.8:p.Ser913Pro
NM_001943.3:c.2737T>C , LRG_397t1:c.2737T>C (DSG2) NP_001934.2:p.Ser913Pro
NR_045216.1:n.1346-217A>G (DSG2-AS1)
NM_001943.4:c.2737T>C (DSG2) NP_001934.2:p.Ser913Pro
XM_024451095.1:c.2203T>C (DSG2) XP_024306863.1:p.Ser735Pro
NM_001943.5:c.2737T>C (DSG2) MANE Select NP_001934.2:p.Ser913Pro
Search 100 bp 5'
Search 100 bp 3'