Canonical Allele Identifier: CA8928348
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs745369295
ExAC: 18:29122843 T / TGGG
MyVariant Identifiers: chr18:g.29122843_29122844insGGG (hg19) chr18:g.31542880_31542881insGGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542884_31542886dup , CM000680.2:g.31542884_31542886dup GRCh38
NC_000018.9:g.29122847_29122849dup , CM000680.1:g.29122847_29122849dup GRCh37
NC_000018.8:g.27376845_27376847dup NCBI36
NG_007072.3:g.49643_49645dup , LRG_397:g.49643_49645dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2334+32_2334+34dup (DSG2) MANE Select ENSP00000261590.8:n.2334+32_2334+34dup
ENST00000261590.12:c.2334+32_2334+34dup (DSG2) ENSP00000261590.8:n.2334+32_2334+34dup
NM_001943.3:c.2334+32_2334+34dup , LRG_397t1:c.2334+32_2334+34dup (DSG2) NP_001934.2:n.2334+32_2334+34dup
NR_045216.1:n.1810+219_1810+221dup (DSG2-AS1)
NM_001943.4:c.2334+32_2334+34dup (DSG2) NP_001934.2:n.2334+32_2334+34dup
XM_024451095.1:c.1800+32_1800+34dup (DSG2) XP_024306863.1:n.1800+32_1800+34dup
NM_001943.5:c.2334+32_2334+34dup (DSG2) MANE Select NP_001934.2:n.2334+32_2334+34dup
Search 100 bp 5'
Search 100 bp 3'