Canonical Allele Identifier: CA503598137

Gene: DSG2 DSG2-AS1

Linked Data

• gnomAD v4: 18-31542559-C-T
• MyVariant Identifiers: chr18:g.29122522C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31542559C>T , CM000680.2:g.31542559C>T	GRCh38
NC_000018.9:g.29122522C>T , CM000680.1:g.29122522C>T	GRCh37
NC_000018.8:g.27376520C>T	NCBI36
NG_007072.3:g.49318C>T , LRG_397:g.49318C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.2041C>T (DSG2) MANE Select	ENSP00000261590.8:p.Leu681=
ENST00000261590.12:c.2041C>T (DSG2)	ENSP00000261590.8:p.Leu681=
NM_001943.3:c.2041C>T , LRG_397t1:c.2041C>T (DSG2)	NP_001934.2:p.Leu681=
NR_045216.1:n.1811-238G>A (DSG2-AS1)
NM_001943.4:c.2041C>T (DSG2)	NP_001934.2:p.Leu681=
XM_024451095.1:c.1507C>T (DSG2)	XP_024306863.1:p.Leu503=
NM_001943.5:c.2041C>T (DSG2) MANE Select	NP_001934.2:p.Leu681=