Canonical Allele Identifier: CA503598229

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29102191C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522228C>T , CM000680.2:g.31522228C>T	GRCh38
NC_000018.9:g.29102191C>T , CM000680.1:g.29102191C>T	GRCh37
NC_000018.8:g.27356189C>T	NCBI36
NG_007072.3:g.28987C>T , LRG_397:g.28987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.500C>T
ENST00000682241.2:c.669C>T	ENSP00000507600.2:p.Thr223=
ENST00000683614.2:n.500C>T
ENST00000682087.1:c.500C>T
ENST00000682241.1:c.500C>T
ENST00000683614.1:c.500C>T
ENST00000683654.1:c.669C>T	ENSP00000506971.1:p.Thr223=
ENST00000684461.1:n.1339C>T
ENST00000261590.13:c.669C>T MANE Select	ENSP00000261590.8:p.Thr223=
ENST00000261590.12:c.669C>T	ENSP00000261590.8:p.Thr223=
ENST00000585206.1:c.669C>T	ENSP00000462503.1:p.Thr223=
NM_001943.3:c.669C>T , LRG_397t1:c.669C>T	NP_001934.2:p.Thr223=
NM_001943.4:c.669C>T	NP_001934.2:p.Thr223=
XM_024451095.1:c.135C>T	XP_024306863.1:p.Thr45=
NM_001943.5:c.669C>T MANE Select	NP_001934.2:p.Thr223=