Canonical Allele Identifier: CA503598176

Gene: DSG2

Linked Data

• ClinVar Variation Id: 1332050
• ClinVar RCV Id: RCV001804566
• dbSNP Id: rs1598811341
• gnomAD v4: 18-31522174-T-C
• MyVariant Identifiers: chr18:g.29102137T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522174T>C , CM000680.2:g.31522174T>C	GRCh38
NC_000018.9:g.29102137T>C , CM000680.1:g.29102137T>C	GRCh37
NC_000018.8:g.27356135T>C	NCBI36
NG_007072.3:g.28933T>C , LRG_397:g.28933T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.446T>C
ENST00000682241.2:c.615T>C	ENSP00000507600.2:p.Pro205=
ENST00000683614.2:n.446T>C
ENST00000682087.1:c.446T>C
ENST00000682241.1:c.446T>C
ENST00000683614.1:c.446T>C
ENST00000683654.1:c.615T>C	ENSP00000506971.1:p.Pro205=
ENST00000684461.1:n.1285T>C
ENST00000261590.13:c.615T>C MANE Select	ENSP00000261590.8:p.Pro205=
ENST00000261590.12:c.615T>C	ENSP00000261590.8:p.Pro205=
ENST00000585206.1:c.615T>C	ENSP00000462503.1:p.Pro205=
NM_001943.3:c.615T>C , LRG_397t1:c.615T>C	NP_001934.2:p.Pro205=
NM_001943.4:c.615T>C	NP_001934.2:p.Pro205=
XM_024451095.1:c.81T>C	XP_024306863.1:p.Pro27=
NM_001943.5:c.615T>C MANE Select	NP_001934.2:p.Pro205=