Canonical Allele Identifier: CA021444
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 199796
ClinVar RCV Id: RCV000181199
dbSNP Id: rs397516702
MyVariant Identifiers: chr18:g.29099836G>C (hg19) chr18:g.31519873G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31519873G>C , CM000680.2:g.31519873G>C GRCh38
NC_000018.9:g.29099836G>C , CM000680.1:g.29099836G>C GRCh37
NC_000018.8:g.27353834G>C NCBI36
NG_007072.3:g.26632G>C , LRG_397:g.26632G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682241.2:c.152G>C ENSP00000507600.2:p.Trp51Ser
ENST00000683654.1:c.152G>C ENSP00000506971.1:p.Trp51Ser
ENST00000261590.13:c.152G>C MANE Select ENSP00000261590.8:p.Trp51Ser
ENST00000261590.12:c.152G>C ENSP00000261590.8:p.Trp51Ser
ENST00000585206.1:c.152G>C ENSP00000462503.1:p.Trp51Ser
NM_001943.3:c.152G>C , LRG_397t1:c.152G>C NP_001934.2:p.Trp51Ser
NM_001943.4:c.152G>C NP_001934.2:p.Trp51Ser
XM_024451095.1:c.-383G>C XP_024306863.1:n.-383G>C
NM_001943.5:c.152G>C MANE Select NP_001934.2:p.Trp51Ser
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