Canonical Allele Identifier: CA2293857092

Gene: DSG2

Linked Data

• ClinVar Variation Id: 1951499
• ClinVar RCV Id: RCV002686209
• dbSNP Id: rs2073149728

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524569_31524570insCAT , CM000680.2:g.31524569_31524570insCAT	GRCh38
NC_000018.9:g.29104532_29104533insCAT , CM000680.1:g.29104532_29104533insCAT	GRCh37
NC_000018.8:g.27358530_27358531insCAT	NCBI36
NG_007072.3:g.31328_31329insCAT , LRG_397:g.31328_31329insCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.643_644insCAT
ENST00000683614.2:n.643_644insCAT
ENST00000682087.1:c.643_644insCAT
ENST00000683614.1:c.643_644insCAT
ENST00000261590.13:c.812_813insCAT MANE Select	ENSP00000261590.8:p.Val271_Val272insIle
ENST00000261590.12:c.812_813insCAT	ENSP00000261590.8:p.Val271_Val272insIle
NM_001943.3:c.812_813insCAT , LRG_397t1:c.812_813insCAT	NP_001934.2:p.Val271_Val272insIle
NM_001943.4:c.812_813insCAT	NP_001934.2:p.Val271_Val272insIle
XM_024451095.1:c.278_279insCAT	XP_024306863.1:p.Val93_Val94insIle
NM_001943.5:c.812_813insCAT MANE Select	NP_001934.2:p.Val271_Val272insIle