Canonical Allele Identifier: CA778415353
Gene: DSG2 HGNC NCBI

Linked Data

dbSNP Id: rs1167562399
MyVariant Identifiers: chr18:g.29111386G>A (hg19) chr18:g.31531423G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531423G>A , CM000680.2:g.31531423G>A GRCh38
NC_000018.9:g.29111386G>A , CM000680.1:g.29111386G>A GRCh37
NC_000018.8:g.27365384G>A NCBI36
NG_007072.3:g.38182G>A , LRG_397:g.38182G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683614.2:n.1282G>A
ENST00000683614.1:c.1282G>A
ENST00000261590.13:c.1280+171G>A MANE Select ENSP00000261590.8:n.1280+171G>A
ENST00000261590.12:c.1280+171G>A ENSP00000261590.8:n.1280+171G>A
NM_001943.3:c.1280+171G>A , LRG_397t1:c.1280+171G>A NP_001934.2:n.1280+171G>A
NM_001943.4:c.1280+171G>A NP_001934.2:n.1280+171G>A
XM_024451095.1:c.746+171G>A XP_024306863.1:n.746+171G>A
NM_001943.5:c.1280+171G>A MANE Select NP_001934.2:n.1280+171G>A
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