Canonical Allele Identifier: CA402133986

Gene: DSG2

Linked Data

• dbSNP Id: rs1281946102
• gnomAD v4: 18-31522218-T-C
• MyVariant Identifiers: chr18:g.29102181T>C (hg19) ; chr18:g.31522218T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522218T>C , CM000680.2:g.31522218T>C	GRCh38
NC_000018.9:g.29102181T>C , CM000680.1:g.29102181T>C	GRCh37
NC_000018.8:g.27356179T>C	NCBI36
NG_007072.3:g.28977T>C , LRG_397:g.28977T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.490T>C
ENST00000682241.2:c.659T>C	ENSP00000507600.2:p.Ile220Thr
ENST00000683614.2:n.490T>C
ENST00000682087.1:c.490T>C
ENST00000682241.1:c.490T>C
ENST00000683614.1:c.490T>C
ENST00000683654.1:c.659T>C	ENSP00000506971.1:p.Ile220Thr
ENST00000684461.1:n.1329T>C
ENST00000261590.13:c.659T>C MANE Select	ENSP00000261590.8:p.Ile220Thr
ENST00000261590.12:c.659T>C	ENSP00000261590.8:p.Ile220Thr
ENST00000585206.1:c.659T>C	ENSP00000462503.1:p.Ile220Thr
NM_001943.3:c.659T>C , LRG_397t1:c.659T>C	NP_001934.2:p.Ile220Thr
NM_001943.4:c.659T>C	NP_001934.2:p.Ile220Thr
XM_024451095.1:c.125T>C	XP_024306863.1:p.Ile42Thr
NM_001943.5:c.659T>C MANE Select	NP_001934.2:p.Ile220Thr