Canonical Allele Identifier: CA10651535

Gene: DSG2 DSG2-AS1

Linked Data

• ClinVar Variation Id: 326489
• ClinVar RCV Id: RCV000393794 ; RCV000521532 ; RCV001181528 ; RCV002446587
• dbSNP Id: rs886053716
• gnomAD v2: 18-29126393-T-C
• gnomAD v3: 18-31546430-T-C
• gnomAD v4: 18-31546430-T-C
• MyVariant Identifiers: chr18:g.29126393T>C (hg19) ; chr18:g.31546430T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31546430T>C , CM000680.2:g.31546430T>C	GRCh38
NC_000018.9:g.29126393T>C , CM000680.1:g.29126393T>C	GRCh37
NC_000018.8:g.27380391T>C	NCBI36
NG_007072.3:g.53189T>C , LRG_397:g.53189T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261590.13:c.3044T>C (DSG2) MANE Select	ENSP00000261590.8:p.Met1015Thr
ENST00000261590.12:c.3044T>C (DSG2)	ENSP00000261590.8:p.Met1015Thr
NM_001943.3:c.3044T>C , LRG_397t1:c.3044T>C (DSG2)	NP_001934.2:p.Met1015Thr
NR_045216.1:n.1346-524A>G (DSG2-AS1)
NM_001943.4:c.3044T>C (DSG2)	NP_001934.2:p.Met1015Thr
XM_024451095.1:c.2510T>C (DSG2)	XP_024306863.1:p.Met837Thr
NM_001943.5:c.3044T>C (DSG2) MANE Select	NP_001934.2:p.Met1015Thr