This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA402149091
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31546631C>A
GRCh37 chr18:g.29126594C>A
Revel Score:
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546631C>A , CM000680.2:g.31546631C>A GRCh38
NC_000018.9:g.29126594C>A , CM000680.1:g.29126594C>A GRCh37
NC_000018.8:g.27380592C>A NCBI36
NG_007072.3:g.53390C>A , LRG_397:g.53390C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.3245C>A (DSG2) MANE Select ENSP00000261590.8:p.Pro1082His
ENST00000261590.12:c.3245C>A (DSG2) ENSP00000261590.8:p.Pro1082His
NM_001943.3:c.3245C>A , LRG_397t1:c.3245C>A (DSG2) NP_001934.2:p.Pro1082His
NR_045216.1:n.1346-725G>T (DSG2-AS1)
NM_001943.4:c.3245C>A (DSG2) NP_001934.2:p.Pro1082His
XM_024451095.1:c.2711C>A (DSG2) XP_024306863.1:p.Pro904His
NM_001943.5:c.3245C>A (DSG2) MANE Select NP_001934.2:p.Pro1082His
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