Canonical Allele Identifier: CA2741576444
Gene: DSG2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531484T>C , CM000680.2:g.31531484T>C GRCh38
NC_000018.9:g.29111447T>C , CM000680.1:g.29111447T>C GRCh37
NC_000018.8:g.27365445T>C NCBI36
NG_007072.3:g.38243T>C , LRG_397:g.38243T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683614.2:n.1343T>C
ENST00000683614.1:c.1343T>C
ENST00000261590.13:c.1280+232T>C MANE Select ENSP00000261590.8:n.1280+232T>C
ENST00000261590.12:c.1280+232T>C ENSP00000261590.8:n.1280+232T>C
NM_001943.3:c.1280+232T>C , LRG_397t1:c.1280+232T>C NP_001934.2:n.1280+232T>C
NM_001943.4:c.1280+232T>C NP_001934.2:n.1280+232T>C
XM_024451095.1:c.746+232T>C XP_024306863.1:n.746+232T>C
NM_001943.5:c.1280+232T>C MANE Select NP_001934.2:n.1280+232T>C
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