Canonical Allele Identifier: CA402130892

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29099857T>A (hg19) ; chr18:g.31519894T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31519894T>A , CM000680.2:g.31519894T>A	GRCh38
NC_000018.9:g.29099857T>A , CM000680.1:g.29099857T>A	GRCh37
NC_000018.8:g.27353855T>A	NCBI36
NG_007072.3:g.26653T>A , LRG_397:g.26653T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.4T>A
ENST00000682241.2:c.173T>A	ENSP00000507600.2:p.Leu58His
ENST00000683614.2:n.4T>A
ENST00000682087.1:c.4T>A
ENST00000682241.1:c.4T>A
ENST00000683614.1:c.4T>A
ENST00000683654.1:c.173T>A	ENSP00000506971.1:p.Leu58His
ENST00000684461.1:n.4T>A
ENST00000261590.13:c.173T>A MANE Select	ENSP00000261590.8:p.Leu58His
ENST00000261590.12:c.173T>A	ENSP00000261590.8:p.Leu58His
ENST00000585206.1:c.173T>A	ENSP00000462503.1:p.Leu58His
NM_001943.3:c.173T>A , LRG_397t1:c.173T>A	NP_001934.2:p.Leu58His
NM_001943.4:c.173T>A	NP_001934.2:p.Leu58His
XM_024451095.1:c.-362T>A	XP_024306863.1:n.-362T>A
NM_001943.5:c.173T>A MANE Select	NP_001934.2:p.Leu58His