Canonical Allele Identifier: CA044381

Gene: DSG2

Linked Data

• ClinVar Variation Id: 576836
• ClinVar RCV Id: RCV000699429 ; RCV001524293 ; RCV003999691
• dbSNP Id: rs766353242
• ExAC: 18:29121228 T / C
• gnomAD v3: 18-31541265-T-C
• gnomAD v4: 18-31541265-T-C
• MyVariant Identifiers: chr18:g.29121228T>C (hg19) ; chr18:g.31541265T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31541265T>C , CM000680.2:g.31541265T>C	GRCh38
NC_000018.9:g.29121228T>C , CM000680.1:g.29121228T>C	GRCh37
NC_000018.8:g.27375226T>C	NCBI36
NG_007072.3:g.48024T>C , LRG_397:g.48024T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.1952T>C MANE Select	ENSP00000261590.8:p.Ile651Thr
ENST00000261590.12:c.1952T>C	ENSP00000261590.8:p.Ile651Thr
NM_001943.3:c.1952T>C , LRG_397t1:c.1952T>C	NP_001934.2:p.Ile651Thr
NM_001943.4:c.1952T>C	NP_001934.2:p.Ile651Thr
XM_024451095.1:c.1418T>C	XP_024306863.1:p.Ile473Thr
NM_001943.5:c.1952T>C MANE Select	NP_001934.2:p.Ile651Thr