Canonical Allele Identifier: CA297737263

Gene: DSG2

Linked Data

• dbSNP Id: rs930074402
• MyVariant Identifiers: chr18:g.29111407_29111409del (hg19) ; chr18:g.31531444_31531446del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31531448_31531450del , CM000680.2:g.31531448_31531450del	GRCh38
NC_000018.9:g.29111411_29111413del , CM000680.1:g.29111411_29111413del	GRCh37
NC_000018.8:g.27365409_27365411del	NCBI36
NG_007072.3:g.38207_38209del , LRG_397:g.38207_38209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683614.2:n.1307_1309del
ENST00000683614.1:c.1307_1309del
ENST00000261590.13:c.1280+196_1280+198del MANE Select	ENSP00000261590.8:n.1280+196_1280+198del
ENST00000261590.12:c.1280+196_1280+198del	ENSP00000261590.8:n.1280+196_1280+198del
NM_001943.3:c.1280+196_1280+198del , LRG_397t1:c.1280+196_1280+198del	NP_001934.2:n.1280+196_1280+198del
NM_001943.4:c.1280+196_1280+198del	NP_001934.2:n.1280+196_1280+198del
XM_024451095.1:c.746+196_746+198del	XP_024306863.1:n.746+196_746+198del
NM_001943.5:c.1280+196_1280+198del MANE Select	NP_001934.2:n.1280+196_1280+198del