Canonical Allele Identifier: CA402139004
Gene: DSG2 HGNC NCBI

Linked Data

dbSNP Id: rs1219294209
gnomAD v3: 18-31541192-G-T
gnomAD v4: 18-31541192-G-T
MyVariant Identifiers: chr18:g.29121155G>T (hg19) chr18:g.31541192G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541192G>T , CM000680.2:g.31541192G>T GRCh38
NC_000018.9:g.29121155G>T , CM000680.1:g.29121155G>T GRCh37
NC_000018.8:g.27375153G>T NCBI36
NG_007072.3:g.47951G>T , LRG_397:g.47951G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1880-1G>T MANE Select ENSP00000261590.8:n.1880-1G>T
ENST00000261590.12:c.1880-1G>T ENSP00000261590.8:n.1880-1G>T
NM_001943.3:c.1880-1G>T , LRG_397t1:c.1880-1G>T NP_001934.2:n.1880-1G>T
NM_001943.4:c.1880-1G>T NP_001934.2:n.1880-1G>T
XM_024451095.1:c.1346-1G>T XP_024306863.1:n.1346-1G>T
NM_001943.5:c.1880-1G>T MANE Select NP_001934.2:n.1880-1G>T
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