Canonical Allele Identifier: CA503766548
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29126463A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546500A>C , CM000680.2:g.31546500A>C GRCh38
NC_000018.9:g.29126463A>C , CM000680.1:g.29126463A>C GRCh37
NC_000018.8:g.27380461A>C NCBI36
NG_007072.3:g.53259A>C , LRG_397:g.53259A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.3114A>C (DSG2) MANE Select ENSP00000261590.8:p.Ile1038=
ENST00000261590.12:c.3114A>C (DSG2) ENSP00000261590.8:p.Ile1038=
NM_001943.3:c.3114A>C , LRG_397t1:c.3114A>C (DSG2) NP_001934.2:p.Ile1038=
NR_045216.1:n.1346-594T>G (DSG2-AS1)
NM_001943.4:c.3114A>C (DSG2) NP_001934.2:p.Ile1038=
XM_024451095.1:c.2580A>C (DSG2) XP_024306863.1:p.Ile860=
NM_001943.5:c.3114A>C (DSG2) MANE Select NP_001934.2:p.Ile1038=