Canonical Allele Identifier: CA402139621
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29121228T>A (hg19) chr18:g.31541265T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541265T>A , CM000680.2:g.31541265T>A GRCh38
NC_000018.9:g.29121228T>A , CM000680.1:g.29121228T>A GRCh37
NC_000018.8:g.27375226T>A NCBI36
NG_007072.3:g.48024T>A , LRG_397:g.48024T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1952T>A MANE Select ENSP00000261590.8:p.Ile651Lys
ENST00000261590.12:c.1952T>A ENSP00000261590.8:p.Ile651Lys
NM_001943.3:c.1952T>A , LRG_397t1:c.1952T>A NP_001934.2:p.Ile651Lys
NM_001943.4:c.1952T>A NP_001934.2:p.Ile651Lys
XM_024451095.1:c.1418T>A XP_024306863.1:p.Ile473Lys
NM_001943.5:c.1952T>A MANE Select NP_001934.2:p.Ile651Lys
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