Canonical Allele Identifier: CA021933

Gene: DSG2

Linked Data

• ClinVar Variation Id: 163201
• ClinVar RCV Id: RCV000150533 ; RCV001430314
• dbSNP Id: rs727502983
• gnomAD v4: 18-31520877-A-C
• MyVariant Identifiers: chr18:g.29100840A>C (hg19) ; chr18:g.31520877A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31520877A>C , CM000680.2:g.31520877A>C	GRCh38
NC_000018.9:g.29100840A>C , CM000680.1:g.29100840A>C	GRCh37
NC_000018.8:g.27354838A>C	NCBI36
NG_007072.3:g.27636A>C , LRG_397:g.27636A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.122A>C
ENST00000682241.2:c.291A>C	ENSP00000507600.2:p.Pro97=
ENST00000683614.2:n.122A>C
ENST00000682087.1:c.122A>C
ENST00000682241.1:c.122A>C
ENST00000683614.1:c.122A>C
ENST00000683654.1:c.291A>C	ENSP00000506971.1:p.Pro97=
ENST00000684461.1:n.122A>C
ENST00000261590.13:c.291A>C MANE Select	ENSP00000261590.8:p.Pro97=
ENST00000261590.12:c.291A>C	ENSP00000261590.8:p.Pro97=
ENST00000585206.1:c.291A>C	ENSP00000462503.1:p.Pro97=
NM_001943.3:c.291A>C , LRG_397t1:c.291A>C	NP_001934.2:p.Pro97=
NM_001943.4:c.291A>C	NP_001934.2:p.Pro97=
XM_024451095.1:c.-244A>C	XP_024306863.1:n.-244A>C
NM_001943.5:c.291A>C MANE Select	NP_001934.2:p.Pro97=