Canonical Allele Identifier: CA503597121
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29121169A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541206A>G , CM000680.2:g.31541206A>G GRCh38
NC_000018.9:g.29121169A>G , CM000680.1:g.29121169A>G GRCh37
NC_000018.8:g.27375167A>G NCBI36
NG_007072.3:g.47965A>G , LRG_397:g.47965A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1893A>G MANE Select ENSP00000261590.8:p.Leu631=
ENST00000261590.12:c.1893A>G ENSP00000261590.8:p.Leu631=
NM_001943.3:c.1893A>G , LRG_397t1:c.1893A>G NP_001934.2:p.Leu631=
NM_001943.4:c.1893A>G NP_001934.2:p.Leu631=
XM_024451095.1:c.1359A>G XP_024306863.1:p.Leu453=
NM_001943.5:c.1893A>G MANE Select NP_001934.2:p.Leu631=