Canonical Allele Identifier: CA503765900
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29111195T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531232T>C , CM000680.2:g.31531232T>C GRCh38
NC_000018.9:g.29111195T>C , CM000680.1:g.29111195T>C GRCh37
NC_000018.8:g.27365193T>C NCBI36
NG_007072.3:g.37991T>C , LRG_397:g.37991T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683614.2:n.1091T>C
ENST00000683614.1:c.1091T>C
ENST00000261590.13:c.1260T>C MANE Select ENSP00000261590.8:p.Thr420=
ENST00000261590.12:c.1260T>C ENSP00000261590.8:p.Thr420=
NM_001943.3:c.1260T>C , LRG_397t1:c.1260T>C NP_001934.2:p.Thr420=
NM_001943.4:c.1260T>C NP_001934.2:p.Thr420=
XM_024451095.1:c.726T>C XP_024306863.1:p.Thr242=
NM_001943.5:c.1260T>C MANE Select NP_001934.2:p.Thr420=