Canonical Allele Identifier: CA629453694
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1377181661
gnomAD v2: 18-29125657-GTTTGT-G
gnomAD v3: 18-31545694-GTTTGT-G
gnomAD v4: 18-31545694-GTTTGT-G
MyVariant Identifiers: chr18:g.29125658_29125662del (hg19) chr18:g.31545695_31545699del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31545708_31545712del , CM000680.2:g.31545708_31545712del GRCh38
NC_000018.9:g.29125671_29125675del , CM000680.1:g.29125671_29125675del GRCh37
NC_000018.8:g.27379669_27379673del NCBI36
NG_007072.3:g.52467_52471del , LRG_397:g.52467_52471del

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.2335-13_2335-9del (DSG2) MANE Select ENSP00000261590.8:n.2335-13_2335-9del
ENST00000261590.12:c.2335-13_2335-9del (DSG2) ENSP00000261590.8:n.2335-13_2335-9del
NM_001943.3:c.2335-13_2335-9del , LRG_397t1:c.2335-13_2335-9del (DSG2) NP_001934.2:n.2335-13_2335-9del
NR_045216.1:n.1516+37_1516+41del (DSG2-AS1)
NM_001943.4:c.2335-13_2335-9del (DSG2) NP_001934.2:n.2335-13_2335-9del
XM_024451095.1:c.1801-13_1801-9del (DSG2) XP_024306863.1:n.1801-13_1801-9del
NM_001943.5:c.2335-13_2335-9del (DSG2) MANE Select NP_001934.2:n.2335-13_2335-9del
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