Canonical Allele Identifier: CA021451
Gene: DSG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31519873G>T , CM000680.2:g.31519873G>T GRCh38
NC_000018.9:g.29099836G>T , CM000680.1:g.29099836G>T GRCh37
NC_000018.8:g.27353834G>T NCBI36
NG_007072.3:g.26632G>T , LRG_397:g.26632G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682241.2:c.152G>T ENSP00000507600.2:p.Trp51Leu
ENST00000683654.1:c.152G>T ENSP00000506971.1:p.Trp51Leu
ENST00000261590.13:c.152G>T MANE Select ENSP00000261590.8:p.Trp51Leu
ENST00000261590.12:c.152G>T ENSP00000261590.8:p.Trp51Leu
ENST00000585206.1:c.152G>T ENSP00000462503.1:p.Trp51Leu
NM_001943.3:c.152G>T , LRG_397t1:c.152G>T NP_001934.2:p.Trp51Leu
NM_001943.4:c.152G>T NP_001934.2:p.Trp51Leu
XM_024451095.1:c.-383G>T XP_024306863.1:n.-383G>T
NM_001943.5:c.152G>T MANE Select NP_001934.2:p.Trp51Leu