Canonical Allele Identifier: CA2293857189
Gene: DSG2 HGNC NCBI

Linked Data

dbSNP Id: rs1568106680
gnomAD v4: 18-31524626-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524626A>G , CM000680.2:g.31524626A>G GRCh38
NC_000018.9:g.29104589A>G , CM000680.1:g.29104589A>G GRCh37
NC_000018.8:g.27358587A>G NCBI36
NG_007072.3:g.31385A>G , LRG_397:g.31385A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.659+41A>G
ENST00000683614.2:n.659+41A>G
ENST00000682087.1:c.659+41A>G
ENST00000683614.1:c.659+41A>G
ENST00000261590.13:c.828+41A>G MANE Select ENSP00000261590.8:n.828+41A>G
ENST00000261590.12:c.828+41A>G ENSP00000261590.8:n.828+41A>G
NM_001943.3:c.828+41A>G , LRG_397t1:c.828+41A>G NP_001934.2:n.828+41A>G
NM_001943.4:c.828+41A>G NP_001934.2:n.828+41A>G
XM_024451095.1:c.294+41A>G XP_024306863.1:n.294+41A>G
NM_001943.5:c.828+41A>G MANE Select NP_001934.2:n.828+41A>G
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