Canonical Allele Identifier: CA503600738
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29116292A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536329A>T , CM000680.2:g.31536329A>T GRCh38
NC_000018.9:g.29116292A>T , CM000680.1:g.29116292A>T GRCh37
NC_000018.8:g.27370290A>T NCBI36
NG_007072.3:g.43088A>T , LRG_397:g.43088A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1551A>T MANE Select ENSP00000261590.8:p.Ala517=
ENST00000261590.12:c.1551A>T ENSP00000261590.8:p.Ala517=
NM_001943.3:c.1551A>T , LRG_397t1:c.1551A>T NP_001934.2:p.Ala517=
NM_001943.4:c.1551A>T NP_001934.2:p.Ala517=
XM_024451095.1:c.1017A>T XP_024306863.1:p.Ala339=
NM_001943.5:c.1551A>T MANE Select NP_001934.2:p.Ala517=