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: CA402149076
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31546627G>C
GRCh37 chr18:g.29126590G>C
Revel Score:
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546627G>C , CM000680.2:g.31546627G>C GRCh38
NC_000018.9:g.29126590G>C , CM000680.1:g.29126590G>C GRCh37
NC_000018.8:g.27380588G>C NCBI36
NG_007072.3:g.53386G>C , LRG_397:g.53386G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.3241G>C (DSG2) MANE Select ENSP00000261590.8:p.Val1081Leu
ENST00000261590.12:c.3241G>C (DSG2) ENSP00000261590.8:p.Val1081Leu
NM_001943.3:c.3241G>C , LRG_397t1:c.3241G>C (DSG2) NP_001934.2:p.Val1081Leu
NR_045216.1:n.1346-721C>G (DSG2-AS1)
NM_001943.4:c.3241G>C (DSG2) NP_001934.2:p.Val1081Leu
XM_024451095.1:c.2707G>C (DSG2) XP_024306863.1:p.Val903Leu
NM_001943.5:c.3241G>C (DSG2) MANE Select NP_001934.2:p.Val1081Leu
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