Canonical Allele Identifier: CA048075

Gene: DSG2 DSG2-AS1

Linked Data

• ClinVar Variation Id: 466339
• ClinVar RCV Id: RCV000536789 ; RCV000772098 ; RCV003999237 ; RCV002448706
• dbSNP Id: rs771104963
• ExAC: 18:29126559 G / A
• gnomAD v2: 18-29126559-G-A
• gnomAD v3: 18-31546596-G-A
• gnomAD v4: 18-31546596-G-A
• COSMIC: COSM5470810
• MyVariant Identifiers: chr18:g.29126559G>A (hg19) ; chr18:g.31546596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546596G>A , CM000680.2:g.31546596G>A	GRCh38
NC_000018.9:g.29126559G>A , CM000680.1:g.29126559G>A	GRCh37
NC_000018.8:g.27380557G>A	NCBI36
NG_007072.3:g.53355G>A , LRG_397:g.53355G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.3210G>A (DSG2) MANE Select	ENSP00000261590.8:p.Thr1070=
ENST00000261590.12:c.3210G>A (DSG2)	ENSP00000261590.8:p.Thr1070=
NM_001943.3:c.3210G>A , LRG_397t1:c.3210G>A (DSG2)	NP_001934.2:p.Thr1070=
NR_045216.1:n.1346-690C>T (DSG2-AS1)
NM_001943.4:c.3210G>A (DSG2)	NP_001934.2:p.Thr1070=
XM_024451095.1:c.2676G>A (DSG2)	XP_024306863.1:p.Thr892=
NM_001943.5:c.3210G>A (DSG2) MANE Select	NP_001934.2:p.Thr1070=