Canonical Allele Identifier: CA503766475
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29126289T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546326T>C , CM000680.2:g.31546326T>C GRCh38
NC_000018.9:g.29126289T>C , CM000680.1:g.29126289T>C GRCh37
NC_000018.8:g.27380287T>C NCBI36
NG_007072.3:g.53085T>C , LRG_397:g.53085T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.2940T>C (DSG2) MANE Select ENSP00000261590.8:p.Ala980=
ENST00000261590.12:c.2940T>C (DSG2) ENSP00000261590.8:p.Ala980=
NM_001943.3:c.2940T>C , LRG_397t1:c.2940T>C (DSG2) NP_001934.2:p.Ala980=
NR_045216.1:n.1346-420A>G (DSG2-AS1)
NM_001943.4:c.2940T>C (DSG2) NP_001934.2:p.Ala980=
XM_024451095.1:c.2406T>C (DSG2) XP_024306863.1:p.Ala802=
NM_001943.5:c.2940T>C (DSG2) MANE Select NP_001934.2:p.Ala980=