Canonical Allele Identifier: CA044922
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 648493
ClinVar RCV Id: RCV000803237
dbSNP Id: rs778319427
ExAC: 18:29122608 TGAGATGTCC / T
gnomAD v2: 18-29122608-TGAGATGTCC-T
gnomAD v4: 18-31542645-TGAGATGTCC-T
MyVariant Identifiers: chr18:g.29122609_29122617del (hg19) chr18:g.31542646_31542654del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542652_31542660del , CM000680.2:g.31542652_31542660del GRCh38
NC_000018.9:g.29122615_29122623del , CM000680.1:g.29122615_29122623del GRCh37
NC_000018.8:g.27376613_27376621del NCBI36
NG_007072.3:g.49411_49419del , LRG_397:g.49411_49419del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2134_2142del (DSG2) MANE Select ENSP00000261590.8:p.Ser712_Met714del
ENST00000261590.12:c.2134_2142del (DSG2) ENSP00000261590.8:p.Ser712_Met714del
NM_001943.3:c.2134_2142del , LRG_397t1:c.2134_2142del (DSG2) NP_001934.2:p.Ser712_Met714del
NR_045216.1:n.1811-333_1811-325del (DSG2-AS1)
NM_001943.4:c.2134_2142del (DSG2) NP_001934.2:p.Ser712_Met714del
XM_024451095.1:c.1600_1608del (DSG2) XP_024306863.1:p.Ser534_Met536del
NM_001943.5:c.2134_2142del (DSG2) MANE Select NP_001934.2:p.Ser712_Met714del
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