Canonical Allele Identifier: CA2641407656

Gene: DSG2 DSG2-AS1

Linked Data

• ClinVar Variation Id: 2633665
• ClinVar RCV Id: RCV003400190
• gnomAD v4: 18-31546478-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546479dup , CM000680.2:g.31546479dup	GRCh38
NC_000018.9:g.29126442dup , CM000680.1:g.29126442dup	GRCh37
NC_000018.8:g.27380440dup	NCBI36
NG_007072.3:g.53238dup , LRG_397:g.53238dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.3093dup (DSG2) MANE Select	ENSP00000261590.8:p.Thr1032TyrfsTer6
ENST00000261590.12:c.3093dup (DSG2)	ENSP00000261590.8:p.Thr1032TyrfsTer6
NM_001943.3:c.3093dup , LRG_397t1:c.3093dup (DSG2)	NP_001934.2:p.Thr1032TyrfsTer6
NR_045216.1:n.1346-573dup (DSG2-AS1)
NM_001943.4:c.3093dup (DSG2)	NP_001934.2:p.Thr1032TyrfsTer6
XM_024451095.1:c.2559dup (DSG2)	XP_024306863.1:p.Thr854TyrfsTer6
NM_001943.5:c.3093dup (DSG2) MANE Select	NP_001934.2:p.Thr1032TyrfsTer6