Canonical Allele Identifier: CA021967
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 44310
ClinVar RCV Id: RCV000037297 RCV000642319 RCV002444478 RCV002477090
dbSNP Id: rs397516706
gnomAD v2: 18-29126403-AAG-A
gnomAD v3: 18-31546440-AAG-A
gnomAD v4: 18-31546440-AAG-A
MyVariant Identifiers: chr18:g.29126410_29126411del (hg19) chr18:g.29126406_29126407del (hg19) chr18:g.29126404_29126405del (hg19) chr18:g.31546447_31546448del (hg38) chr18:g.31546441_31546442del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546447_31546448del , CM000680.2:g.31546447_31546448del GRCh38
NC_000018.9:g.29126410_29126411del , CM000680.1:g.29126410_29126411del GRCh37
NC_000018.8:g.27380408_27380409del NCBI36
NG_007072.3:g.53206_53207del , LRG_397:g.53206_53207del

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.3061_3062del (DSG2) MANE Select ENSP00000261590.8:p.Ser1021LeufsTer16
ENST00000261590.12:c.3061_3062del (DSG2) ENSP00000261590.8:p.Ser1021LeufsTer16
NM_001943.3:c.3061_3062del , LRG_397t1:c.3061_3062del (DSG2) NP_001934.2:p.Ser1021LeufsTer16
NR_045216.1:n.1346-536_1346-535del (DSG2-AS1)
NM_001943.4:c.3061_3062del (DSG2) NP_001934.2:p.Ser1021LeufsTer16
XM_024451095.1:c.2527_2528del (DSG2) XP_024306863.1:p.Ser843LeufsTer16
NM_001943.5:c.3061_3062del (DSG2) MANE Select NP_001934.2:p.Ser1021LeufsTer16
Search 100 bp 5'
Search 100 bp 3'