Canonical Allele Identifier: CA402139480
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29111184G>C (hg19) chr18:g.31531221G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531221G>C , CM000680.2:g.31531221G>C GRCh38
NC_000018.9:g.29111184G>C , CM000680.1:g.29111184G>C GRCh37
NC_000018.8:g.27365182G>C NCBI36
NG_007072.3:g.37980G>C , LRG_397:g.37980G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683614.2:n.1080G>C
ENST00000683614.1:c.1080G>C
ENST00000261590.13:c.1249G>C MANE Select ENSP00000261590.8:p.Asp417His
ENST00000261590.12:c.1249G>C ENSP00000261590.8:p.Asp417His
NM_001943.3:c.1249G>C , LRG_397t1:c.1249G>C NP_001934.2:p.Asp417His
NM_001943.4:c.1249G>C NP_001934.2:p.Asp417His
XM_024451095.1:c.715G>C XP_024306863.1:p.Asp239His
NM_001943.5:c.1249G>C MANE Select NP_001934.2:p.Asp417His
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