Canonical Allele Identifier: CA402135690

Gene: DSG2

Linked Data

• dbSNP Id: rs750874996
• gnomAD v2: 18-29104767-T-G
• gnomAD v3: 18-31524804-T-G
• gnomAD v4: 18-31524804-T-G
• MyVariant Identifiers: chr18:g.29104767T>G (hg19) ; chr18:g.31524804T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524804T>G , CM000680.2:g.31524804T>G	GRCh38
NC_000018.9:g.29104767T>G , CM000680.1:g.29104767T>G	GRCh37
NC_000018.8:g.27358765T>G	NCBI36
NG_007072.3:g.31563T>G , LRG_397:g.31563T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.761T>G
ENST00000683614.2:n.761T>G
ENST00000682087.1:c.761T>G
ENST00000683614.1:c.761T>G
ENST00000261590.13:c.930T>G MANE Select	ENSP00000261590.8:p.Phe310Leu
ENST00000261590.12:c.930T>G	ENSP00000261590.8:p.Phe310Leu
NM_001943.3:c.930T>G , LRG_397t1:c.930T>G	NP_001934.2:p.Phe310Leu
NM_001943.4:c.930T>G	NP_001934.2:p.Phe310Leu
XM_024451095.1:c.396T>G	XP_024306863.1:p.Phe132Leu
NM_001943.5:c.930T>G MANE Select	NP_001934.2:p.Phe310Leu