Canonical Allele Identifier: CA2573054651

Gene: DSG2 DSG2-AS1

Linked Data

• ClinVar Variation Id: 1332162
• ClinVar RCV Id: RCV001804678
• dbSNP Id: rs2144360481

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546265_31546286delinsAGCTGAAGCAAG , CM000680.2:g.31546265_31546286delinsAGCTGAAGCAAG	GRCh38
NC_000018.9:g.29126228_29126249delinsAGCTGAAGCAAG , CM000680.1:g.29126228_29126249delinsAGCTGAAGCAAG	GRCh37
NC_000018.8:g.27380226_27380247delinsAGCTGAAGCAAG	NCBI36
NG_007072.3:g.53024_53045delinsAGCTGAAGCAAG , LRG_397:g.53024_53045delinsAGCTGAAGCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.2879_2900delinsAGCTGAAGCAAG (DSG2) MANE Select	ENSP00000261590.8:p.Ser960LysfsTer13
ENST00000261590.12:c.2879_2900delinsAGCTGAAGCAAG (DSG2)	ENSP00000261590.8:p.Ser960LysfsTer13
NM_001943.3:c.2879_2900delinsAGCTGAAGCAAG , LRG_397t1:c.2879_2900delinsAGCTGAAGCAAG (DSG2)	NP_001934.2:p.Ser960LysfsTer13
NR_045216.1:n.1346-380_1346-359delinsCTTGCTTCAGCT (DSG2-AS1)
NM_001943.4:c.2879_2900delinsAGCTGAAGCAAG (DSG2)	NP_001934.2:p.Ser960LysfsTer13
XM_024451095.1:c.2345_2366delinsAGCTGAAGCAAG (DSG2)	XP_024306863.1:p.Ser782LysfsTer13
NM_001943.5:c.2879_2900delinsAGCTGAAGCAAG (DSG2) MANE Select	NP_001934.2:p.Ser960LysfsTer13