Canonical Allele Identifier: CA402139020
Gene: DSG2 HGNC NCBI

Linked Data

dbSNP Id: rs193922639
MyVariant Identifiers: chr18:g.29111109G>C (hg19) chr18:g.31531146G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531146G>C , CM000680.2:g.31531146G>C GRCh38
NC_000018.9:g.29111109G>C , CM000680.1:g.29111109G>C GRCh37
NC_000018.8:g.27365107G>C NCBI36
NG_007072.3:g.37905G>C , LRG_397:g.37905G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000683614.2:n.1005G>C
ENST00000683614.1:c.1005G>C
ENST00000261590.13:c.1174G>C MANE Select ENSP00000261590.8:p.Val392Leu
ENST00000261590.12:c.1174G>C ENSP00000261590.8:p.Val392Leu
NM_001943.3:c.1174G>C , LRG_397t1:c.1174G>C NP_001934.2:p.Val392Leu
NM_001943.4:c.1174G>C NP_001934.2:p.Val392Leu
XM_024451095.1:c.640G>C XP_024306863.1:p.Val214Leu
NM_001943.5:c.1174G>C MANE Select NP_001934.2:p.Val392Leu
Search 100 bp 5'
Search 100 bp 3'