Canonical Allele Identifier: CA297736730
Gene: DSG2 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31530956G>A
GRCh37 chr18:g.29110919G>A
gnomAD v2:
18:29110919 G / A
gnomAD v3:
18:31530956 G / A
gnomAD v4:
chr18-31530956-G-A
Joint Max Group AF 0.00002554 (AFR)
Genomes Max Group AF 0.00001923 (AFR)
Exomes Max Group AF 0.00000992 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31530956G>A , CM000680.2:g.31530956G>A GRCh38
NC_000018.9:g.29110919G>A , CM000680.1:g.29110919G>A GRCh37
NC_000018.8:g.27364917G>A NCBI36
NG_007072.3:g.37715G>A , LRG_397:g.37715G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683614.2:n.846-31G>A
ENST00000683614.1:c.846-31G>A
ENST00000261590.13:c.1015-31G>A MANE Select ENSP00000261590.8:n.1015-31G>A
ENST00000261590.12:c.1015-31G>A ENSP00000261590.8:n.1015-31G>A
NM_001943.3:c.1015-31G>A , LRG_397t1:c.1015-31G>A NP_001934.2:n.1015-31G>A
NM_001943.4:c.1015-31G>A NP_001934.2:n.1015-31G>A
XM_024451095.1:c.481-31G>A XP_024306863.1:n.481-31G>A
NM_001943.5:c.1015-31G>A MANE Select NP_001934.2:n.1015-31G>A
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