Canonical Allele Identifier: CA402139526
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29121215A>C (hg19) chr18:g.31541252A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541252A>C , CM000680.2:g.31541252A>C GRCh38
NC_000018.9:g.29121215A>C , CM000680.1:g.29121215A>C GRCh37
NC_000018.8:g.27375213A>C NCBI36
NG_007072.3:g.48011A>C , LRG_397:g.48011A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1939A>C MANE Select ENSP00000261590.8:p.Ile647Leu
ENST00000261590.12:c.1939A>C ENSP00000261590.8:p.Ile647Leu
NM_001943.3:c.1939A>C , LRG_397t1:c.1939A>C NP_001934.2:p.Ile647Leu
NM_001943.4:c.1939A>C NP_001934.2:p.Ile647Leu
XM_024451095.1:c.1405A>C XP_024306863.1:p.Ile469Leu
NM_001943.5:c.1939A>C MANE Select NP_001934.2:p.Ile647Leu
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