Canonical Allele Identifier: CA022208

Gene: DSG2

Linked Data

• ClinVar Variation Id: 199823
• ClinVar RCV Id: RCV000181239
• dbSNP Id: rs794728092
• MyVariant Identifiers: chr18:g.29102123_29102127del (hg19) ; chr18:g.31522160_31522164del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522160_31522164del , CM000680.2:g.31522160_31522164del	GRCh38
NC_000018.9:g.29102123_29102127del , CM000680.1:g.29102123_29102127del	GRCh37
NC_000018.8:g.27356121_27356125del	NCBI36
NG_007072.3:g.28919_28923del , LRG_397:g.28919_28923del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.432_436del
ENST00000682241.2:c.601_605del	ENSP00000507600.2:p.Val201SerfsTer13
ENST00000683614.2:n.432_436del
ENST00000682087.1:c.432_436del
ENST00000682241.1:c.432_436del
ENST00000683614.1:c.432_436del
ENST00000683654.1:c.601_605del	ENSP00000506971.1:p.Val201SerfsTer13
ENST00000684461.1:n.1271_1275del
ENST00000261590.13:c.601_605del MANE Select	ENSP00000261590.8:p.Val201SerfsTer13
ENST00000261590.12:c.601_605del	ENSP00000261590.8:p.Val201SerfsTer13
ENST00000585206.1:c.601_605del	ENSP00000462503.1:p.Val201SerfsTer13
NM_001943.3:c.601_605del , LRG_397t1:c.601_605del	NP_001934.2:p.Val201SerfsTer13
NM_001943.4:c.601_605del	NP_001934.2:p.Val201SerfsTer13
XM_024451095.1:c.67_71del	XP_024306863.1:p.Val23SerfsTer13
NM_001943.5:c.601_605del MANE Select	NP_001934.2:p.Val201SerfsTer13