Canonical Allele Identifier: CA022269

Gene: DSG2

Linked Data

• ClinVar Variation Id: 163204
• ClinVar RCV Id: RCV000150536 ; RCV001045466 ; RCV001181124 ; RCV001563010 ; RCV002478420 ; RCV003998190
• dbSNP Id: rs727502986
• ExAC: 18:29104526 T / C
• gnomAD v2: 18-29104526-T-C
• gnomAD v3: 18-31524563-T-C
• gnomAD v4: 18-31524563-T-C
• MyVariant Identifiers: chr18:g.29104526T>C (hg19) ; chr18:g.31524563T>C (hg38)
• PubMed: PMID:20400443

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524563T>C , CM000680.2:g.31524563T>C	GRCh38
NC_000018.9:g.29104526T>C , CM000680.1:g.29104526T>C	GRCh37
NC_000018.8:g.27358524T>C	NCBI36
NG_007072.3:g.31322T>C , LRG_397:g.31322T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.637T>C
ENST00000683614.2:n.637T>C
ENST00000682087.1:c.637T>C
ENST00000683614.1:c.637T>C
ENST00000261590.13:c.806T>C MANE Select	ENSP00000261590.8:p.Ile269Thr
ENST00000261590.12:c.806T>C	ENSP00000261590.8:p.Ile269Thr
NM_001943.3:c.806T>C , LRG_397t1:c.806T>C	NP_001934.2:p.Ile269Thr
NM_001943.4:c.806T>C	NP_001934.2:p.Ile269Thr
XM_024451095.1:c.272T>C	XP_024306863.1:p.Ile91Thr
NM_001943.5:c.806T>C MANE Select	NP_001934.2:p.Ile269Thr