Canonical Allele Identifier: CA402135169

Gene: DSG2

Linked Data

• gnomAD v4: 18-31524545-T-G
• MyVariant Identifiers: chr18:g.29104508T>G (hg19) ; chr18:g.31524545T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524545T>G , CM000680.2:g.31524545T>G	GRCh38
NC_000018.9:g.29104508T>G , CM000680.1:g.29104508T>G	GRCh37
NC_000018.8:g.27358506T>G	NCBI36
NG_007072.3:g.31304T>G , LRG_397:g.31304T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.619T>G
ENST00000683614.2:n.619T>G
ENST00000682087.1:c.619T>G
ENST00000683614.1:c.619T>G
ENST00000261590.13:c.788T>G MANE Select	ENSP00000261590.8:p.Leu263Trp
ENST00000261590.12:c.788T>G	ENSP00000261590.8:p.Leu263Trp
NM_001943.3:c.788T>G , LRG_397t1:c.788T>G	NP_001934.2:p.Leu263Trp
NM_001943.4:c.788T>G	NP_001934.2:p.Leu263Trp
XM_024451095.1:c.254T>G	XP_024306863.1:p.Leu85Trp
NM_001943.5:c.788T>G MANE Select	NP_001934.2:p.Leu263Trp