Canonical Allele Identifier: CA503600671
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29116193A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536230A>C , CM000680.2:g.31536230A>C GRCh38
NC_000018.9:g.29116193A>C , CM000680.1:g.29116193A>C GRCh37
NC_000018.8:g.27370191A>C NCBI36
NG_007072.3:g.42989A>C , LRG_397:g.42989A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.1452A>C MANE Select ENSP00000261590.8:p.Thr484=
ENST00000261590.12:c.1452A>C ENSP00000261590.8:p.Thr484=
NM_001943.3:c.1452A>C , LRG_397t1:c.1452A>C NP_001934.2:p.Thr484=
NM_001943.4:c.1452A>C NP_001934.2:p.Thr484=
XM_024451095.1:c.918A>C XP_024306863.1:p.Thr306=
NM_001943.5:c.1452A>C MANE Select NP_001934.2:p.Thr484=