Canonical Allele Identifier: CA402139984
Gene: DSG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541313A>T , CM000680.2:g.31541313A>T GRCh38
NC_000018.9:g.29121276A>T , CM000680.1:g.29121276A>T GRCh37
NC_000018.8:g.27375274A>T NCBI36
NG_007072.3:g.48072A>T , LRG_397:g.48072A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2000A>T MANE Select ENSP00000261590.8:p.Lys667Met
ENST00000261590.12:c.2000A>T ENSP00000261590.8:p.Lys667Met
NM_001943.3:c.2000A>T , LRG_397t1:c.2000A>T NP_001934.2:p.Lys667Met
NM_001943.4:c.2000A>T NP_001934.2:p.Lys667Met
XM_024451095.1:c.1466A>T XP_024306863.1:p.Lys489Met
NM_001943.5:c.2000A>T MANE Select NP_001934.2:p.Lys667Met