Canonical Allele Identifier: CA402135629

Gene: DSG2

Linked Data

• gnomAD v4: 18-31524777-A-G
• MyVariant Identifiers: chr18:g.29104740A>G (hg19) ; chr18:g.31524777A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524777A>G , CM000680.2:g.31524777A>G	GRCh38
NC_000018.9:g.29104740A>G , CM000680.1:g.29104740A>G	GRCh37
NC_000018.8:g.27358738A>G	NCBI36
NG_007072.3:g.31536A>G , LRG_397:g.31536A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.734A>G
ENST00000683614.2:n.734A>G
ENST00000682087.1:c.734A>G
ENST00000683614.1:c.734A>G
ENST00000261590.13:c.903A>G MANE Select	ENSP00000261590.8:p.Ile301Met
ENST00000261590.12:c.903A>G	ENSP00000261590.8:p.Ile301Met
NM_001943.3:c.903A>G , LRG_397t1:c.903A>G	NP_001934.2:p.Ile301Met
NM_001943.4:c.903A>G	NP_001934.2:p.Ile301Met
XM_024451095.1:c.369A>G	XP_024306863.1:p.Ile123Met
NM_001943.5:c.903A>G MANE Select	NP_001934.2:p.Ile301Met