Canonical Allele Identifier: CA402139280

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29111152A>T (hg19) ; chr18:g.31531189A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31531189A>T , CM000680.2:g.31531189A>T	GRCh38
NC_000018.9:g.29111152A>T , CM000680.1:g.29111152A>T	GRCh37
NC_000018.8:g.27365150A>T	NCBI36
NG_007072.3:g.37948A>T , LRG_397:g.37948A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683614.2:n.1048A>T
ENST00000683614.1:c.1048A>T
ENST00000261590.13:c.1217A>T MANE Select	ENSP00000261590.8:p.Lys406Ile
ENST00000261590.12:c.1217A>T	ENSP00000261590.8:p.Lys406Ile
NM_001943.3:c.1217A>T , LRG_397t1:c.1217A>T	NP_001934.2:p.Lys406Ile
NM_001943.4:c.1217A>T	NP_001934.2:p.Lys406Ile
XM_024451095.1:c.683A>T	XP_024306863.1:p.Lys228Ile
NM_001943.5:c.1217A>T MANE Select	NP_001934.2:p.Lys406Ile