Canonical Allele Identifier: CA402147987
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs200830807

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546426G>T , CM000680.2:g.31546426G>T GRCh38
NC_000018.9:g.29126389G>T , CM000680.1:g.29126389G>T GRCh37
NC_000018.8:g.27380387G>T NCBI36
NG_007072.3:g.53185G>T , LRG_397:g.53185G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.3040G>T (DSG2) MANE Select ENSP00000261590.8:p.Val1014Phe
ENST00000261590.12:c.3040G>T (DSG2) ENSP00000261590.8:p.Val1014Phe
NM_001943.3:c.3040G>T , LRG_397t1:c.3040G>T (DSG2) NP_001934.2:p.Val1014Phe
NR_045216.1:n.1346-520C>A (DSG2-AS1)
NM_001943.4:c.3040G>T (DSG2) NP_001934.2:p.Val1014Phe
XM_024451095.1:c.2506G>T (DSG2) XP_024306863.1:p.Val836Phe
NM_001943.5:c.3040G>T (DSG2) MANE Select NP_001934.2:p.Val1014Phe