Canonical Allele Identifier: CA658658730

Gene: DSG2

Linked Data

• ClinVar Variation Id: 451114
• ClinVar RCV Id: RCV003631130
• dbSNP Id: rs1555671201
• MyVariant Identifiers: chr18:g.29100856_29100857del (hg19) ; chr18:g.31520893_31520894del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31520893_31520894del , CM000680.2:g.31520893_31520894del	GRCh38
NC_000018.9:g.29100856_29100857del , CM000680.1:g.29100856_29100857del	GRCh37
NC_000018.8:g.27354854_27354855del	NCBI36
NG_007072.3:g.27652_27653del , LRG_397:g.27652_27653del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.138_139del
ENST00000682241.2:c.307_308del	ENSP00000507600.2:p.Val103LeufsTer2
ENST00000683614.2:n.138_139del
ENST00000682087.1:c.138_139del
ENST00000682241.1:c.138_139del
ENST00000683614.1:c.138_139del
ENST00000683654.1:c.307_308del	ENSP00000506971.1:p.Val103LeufsTer2
ENST00000684461.1:n.138_139del
ENST00000261590.13:c.307_308del MANE Select	ENSP00000261590.8:p.Val103LeufsTer2
ENST00000261590.12:c.307_308del	ENSP00000261590.8:p.Val103LeufsTer2
ENST00000585206.1:c.307_308del	ENSP00000462503.1:p.Val103LeufsTer2
NM_001943.3:c.307_308del , LRG_397t1:c.307_308del	NP_001934.2:p.Val103LeufsTer2
NM_001943.4:c.307_308del	NP_001934.2:p.Val103LeufsTer2
XM_024451095.1:c.-228_-227del	XP_024306863.1:n.-228_-227del
NM_001943.5:c.307_308del MANE Select	NP_001934.2:p.Val103LeufsTer2