Canonical Allele Identifier: CA402141278
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29116197C>A (hg19) chr18:g.31536234C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536234C>A , CM000680.2:g.31536234C>A GRCh38
NC_000018.9:g.29116197C>A , CM000680.1:g.29116197C>A GRCh37
NC_000018.8:g.27370195C>A NCBI36
NG_007072.3:g.42993C>A , LRG_397:g.42993C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.1456C>A MANE Select ENSP00000261590.8:p.Leu486Ile
ENST00000261590.12:c.1456C>A ENSP00000261590.8:p.Leu486Ile
NM_001943.3:c.1456C>A , LRG_397t1:c.1456C>A NP_001934.2:p.Leu486Ile
NM_001943.4:c.1456C>A NP_001934.2:p.Leu486Ile
XM_024451095.1:c.922C>A XP_024306863.1:p.Leu308Ile
NM_001943.5:c.1456C>A MANE Select NP_001934.2:p.Leu486Ile
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