Canonical Allele Identifier: CA2293856910
Community Standard Title: NM_001943.5(DSG2):c.889G= (p.Asp297=)
Gene: DSG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524763G= , CM000680.2:g.31524763G= GRCh38
NC_000018.9:g.29104726G= , CM000680.1:g.29104726G= GRCh37
NC_000018.8:g.27358724G= NCBI36
NG_007072.3:g.31522G= , LRG_397:g.31522G=

Transcript Alleles

HGVS Amino-acid Change
NM_001943.5:c.889G= MANE Select NP_001934.2:p.Asp297=
ENST00000261590.13:c.889G= MANE Select ENSP00000261590.8:p.Asp297=
NM_001943.3:c.889G= , LRG_397t1:c.889G= NP_001934.2:p.Asp297=
NM_001943.4:c.889G= NP_001934.2:p.Asp297=
ENST00000261590.12:c.889G= ENSP00000261590.8:p.Asp297=
ENST00000682087.1:c.720G=
ENST00000682087.2:n.720G=
ENST00000683614.1:c.720G=
ENST00000683614.2:n.720G=
XM_024451095.1:c.355G= XP_024306863.1:p.Asp119=