Canonical Allele Identifier: CA041176
Gene: DSG2 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31530951T>C
GRCh37 chr18:g.29110914T>C
gnomAD v2:
18:29110914 T / C
gnomAD v3:
18:31530951 T / C
gnomAD v4:
chr18-31530951-T-C
Joint Max Group AF 0.00002552 (AFR)
Genomes Max Group AF 0.00001919 (AFR)
Exomes Max Group AF 0.00000993 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31530951T>C , CM000680.2:g.31530951T>C GRCh38
NC_000018.9:g.29110914T>C , CM000680.1:g.29110914T>C GRCh37
NC_000018.8:g.27364912T>C NCBI36
NG_007072.3:g.37710T>C , LRG_397:g.37710T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683614.2:n.846-36T>C
ENST00000683614.1:c.846-36T>C
ENST00000261590.13:c.1015-36T>C MANE Select ENSP00000261590.8:n.1015-36T>C
ENST00000261590.12:c.1015-36T>C ENSP00000261590.8:n.1015-36T>C
NM_001943.3:c.1015-36T>C , LRG_397t1:c.1015-36T>C NP_001934.2:n.1015-36T>C
NM_001943.4:c.1015-36T>C NP_001934.2:n.1015-36T>C
XM_024451095.1:c.481-36T>C XP_024306863.1:n.481-36T>C
NM_001943.5:c.1015-36T>C MANE Select NP_001934.2:n.1015-36T>C
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