Canonical Allele Identifier: CA629149018
Gene: DSG2 HGNC NCBI

Linked Data

dbSNP Id: rs1363965315
gnomAD v2: 18-29121303-C-T
gnomAD v4: 18-31541340-C-T
MyVariant Identifiers: chr18:g.29121303C>T (hg19) chr18:g.31541340C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541340C>T , CM000680.2:g.31541340C>T GRCh38
NC_000018.9:g.29121303C>T , CM000680.1:g.29121303C>T GRCh37
NC_000018.8:g.27375301C>T NCBI36
NG_007072.3:g.48099C>T , LRG_397:g.48099C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2001+26C>T MANE Select ENSP00000261590.8:n.2001+26C>T
ENST00000261590.12:c.2001+26C>T ENSP00000261590.8:n.2001+26C>T
NM_001943.3:c.2001+26C>T , LRG_397t1:c.2001+26C>T NP_001934.2:n.2001+26C>T
NM_001943.4:c.2001+26C>T NP_001934.2:n.2001+26C>T
XM_024451095.1:c.1467+26C>T XP_024306863.1:n.1467+26C>T
NM_001943.5:c.2001+26C>T MANE Select NP_001934.2:n.2001+26C>T
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