Canonical Allele Identifier: CA988914029

Gene: DSG2 DSG2-AS1

Linked Data

• dbSNP Id: rs2073319541
• gnomAD v3: 18-31547244-ATAACTT-A
• gnomAD v4: 18-31547244-ATAACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31547245_31547250del , CM000680.2:g.31547245_31547250del	GRCh38
NC_000018.9:g.29127208_29127213del , CM000680.1:g.29127208_29127213del	GRCh37
NC_000018.8:g.27381206_27381211del	NCBI36
NG_007072.3:g.54004_54009del , LRG_397:g.54004_54009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.*502_*507del (DSG2) MANE Select	ENSP00000261590.8:n.*502_*507del
ENST00000261590.12:c.*502_*507del (DSG2)	ENSP00000261590.8:n.*502_*507del
NM_001943.3:c.*502_*507del , LRG_397t1:c.*502_*507del (DSG2)	NP_001934.2:n.*502_*507del
NR_045216.1:n.1346-1344_1346-1339del (DSG2-AS1)
NM_001943.4:c.*502_*507del (DSG2)	NP_001934.2:n.*502_*507del
XM_024451095.1:c.*502_*507del (DSG2)	XP_024306863.1:n.*502_*507del
NM_001943.5:c.*502_*507del (DSG2) MANE Select	NP_001934.2:n.*502_*507del