Canonical Allele Identifier: CA2293854975
Community Standard Title: NM_001943.5(DSG2):c.137G= (p.Arg46=)
Gene: DSG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31519858G= , CM000680.2:g.31519858G= GRCh38
NC_000018.9:g.29099821G= , CM000680.1:g.29099821G= GRCh37
NC_000018.8:g.27353819G= NCBI36
NG_007072.3:g.26617G= , LRG_397:g.26617G=

Transcript Alleles

HGVS Amino-acid Change
NM_001943.5:c.137G= MANE Select NP_001934.2:p.Arg46=
ENST00000261590.13:c.137G= MANE Select ENSP00000261590.8:p.Arg46=
NM_001943.3:c.137G= , LRG_397t1:c.137G= NP_001934.2:p.Arg46=
NM_001943.4:c.137G= NP_001934.2:p.Arg46=
ENST00000261590.12:c.137G= ENSP00000261590.8:p.Arg46=
ENST00000585206.1:c.137G= ENSP00000462503.1:p.Arg46=
ENST00000682241.2:c.137G= ENSP00000507600.2:p.Arg46=
ENST00000683654.1:c.137G= ENSP00000506971.1:p.Arg46=
XM_024451095.1:c.-398G= XP_024306863.1:n.-398G=