Canonical Allele Identifier: CA021788
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31545820G>A
GRCh37 chr18:g.29125783G>A
Revel Score:
ENST00000261590 (MANE Select) 0.465
gnomAD v2:
18:29125783 G / A
gnomAD v3:
18:31545820 G / A
gnomAD v4:
chr18-31545820-G-A
Joint Max Group AF 0.00013355 (MID)
Genomes Max Group AF 0.00017009 (AMR)
Exomes Max Group AF 0.00014138 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31545820G>A , CM000680.2:g.31545820G>A GRCh38
NC_000018.9:g.29125783G>A , CM000680.1:g.29125783G>A GRCh37
NC_000018.8:g.27379781G>A NCBI36
NG_007072.3:g.52579G>A , LRG_397:g.52579G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2434G>A (DSG2) MANE Select ENSP00000261590.8:p.Gly812Ser
ENST00000261590.12:c.2434G>A (DSG2) ENSP00000261590.8:p.Gly812Ser
NM_001943.3:c.2434G>A , LRG_397t1:c.2434G>A (DSG2) NP_001934.2:p.Gly812Ser
NR_045216.1:n.1432C>T (DSG2-AS1)
NM_001943.4:c.2434G>A (DSG2) NP_001934.2:p.Gly812Ser
XM_024451095.1:c.1900G>A (DSG2) XP_024306863.1:p.Gly634Ser
NM_001943.5:c.2434G>A (DSG2) MANE Select NP_001934.2:p.Gly812Ser
Search 100 bp 5'
Search 100 bp 3'