Canonical Allele Identifier: CA503766736
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29126520G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546557G>C , CM000680.2:g.31546557G>C GRCh38
NC_000018.9:g.29126520G>C , CM000680.1:g.29126520G>C GRCh37
NC_000018.8:g.27380518G>C NCBI36
NG_007072.3:g.53316G>C , LRG_397:g.53316G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.3171G>C (DSG2) MANE Select ENSP00000261590.8:p.Leu1057=
ENST00000261590.12:c.3171G>C (DSG2) ENSP00000261590.8:p.Leu1057=
NM_001943.3:c.3171G>C , LRG_397t1:c.3171G>C (DSG2) NP_001934.2:p.Leu1057=
NR_045216.1:n.1346-651C>G (DSG2-AS1)
NM_001943.4:c.3171G>C (DSG2) NP_001934.2:p.Leu1057=
XM_024451095.1:c.2637G>C (DSG2) XP_024306863.1:p.Leu879=
NM_001943.5:c.3171G>C (DSG2) MANE Select NP_001934.2:p.Leu1057=