Canonical Allele Identifier: CA402138300
Gene: DSG2 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31531044G>C
GRCh37 chr18:g.29111007G>C
Revel Score:
ENST00000261590 (MANE Select) 0.368
ClinVar RCV:
RCV001192254
ClinVar Variation:
928393
dbSNP:
758537946
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531044G>C , CM000680.2:g.31531044G>C GRCh38
NC_000018.9:g.29111007G>C , CM000680.1:g.29111007G>C GRCh37
NC_000018.8:g.27365005G>C NCBI36
NG_007072.3:g.37803G>C , LRG_397:g.37803G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683614.2:n.903G>C
ENST00000683614.1:c.903G>C
ENST00000261590.13:c.1072G>C MANE Select ENSP00000261590.8:p.Ala358Pro
ENST00000261590.12:c.1072G>C ENSP00000261590.8:p.Ala358Pro
NM_001943.3:c.1072G>C , LRG_397t1:c.1072G>C NP_001934.2:p.Ala358Pro
NM_001943.4:c.1072G>C NP_001934.2:p.Ala358Pro
XM_024451095.1:c.538G>C XP_024306863.1:p.Ala180Pro
NM_001943.5:c.1072G>C MANE Select NP_001934.2:p.Ala358Pro
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