Canonical Allele Identifier: CA044158
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2448373
ClinVar RCV Id: RCV003181658
dbSNP Id: rs749033190
ExAC: 18:29121156 T / C
gnomAD v2: 18-29121156-T-C
gnomAD v4: 18-31541193-T-C
MyVariant Identifiers: chr18:g.29121156T>C (hg19) chr18:g.31541193T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541193T>C , CM000680.2:g.31541193T>C GRCh38
NC_000018.9:g.29121156T>C , CM000680.1:g.29121156T>C GRCh37
NC_000018.8:g.27375154T>C NCBI36
NG_007072.3:g.47952T>C , LRG_397:g.47952T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1880T>C MANE Select ENSP00000261590.8:p.Leu627Ser
ENST00000261590.12:c.1880T>C ENSP00000261590.8:p.Leu627Ser
NM_001943.3:c.1880T>C , LRG_397t1:c.1880T>C NP_001934.2:p.Leu627Ser
NM_001943.4:c.1880T>C NP_001934.2:p.Leu627Ser
XM_024451095.1:c.1346T>C XP_024306863.1:p.Leu449Ser
NM_001943.5:c.1880T>C MANE Select NP_001934.2:p.Leu627Ser
Search 100 bp 5'
Search 100 bp 3'