Canonical Allele Identifier: CA503599176

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29104530T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524567T>C , CM000680.2:g.31524567T>C	GRCh38
NC_000018.9:g.29104530T>C , CM000680.1:g.29104530T>C	GRCh37
NC_000018.8:g.27358528T>C	NCBI36
NG_007072.3:g.31326T>C , LRG_397:g.31326T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.641T>C
ENST00000683614.2:n.641T>C
ENST00000682087.1:c.641T>C
ENST00000683614.1:c.641T>C
ENST00000261590.13:c.810T>C MANE Select	ENSP00000261590.8:p.Pro270=
ENST00000261590.12:c.810T>C	ENSP00000261590.8:p.Pro270=
NM_001943.3:c.810T>C , LRG_397t1:c.810T>C	NP_001934.2:p.Pro270=
NM_001943.4:c.810T>C	NP_001934.2:p.Pro270=
XM_024451095.1:c.276T>C	XP_024306863.1:p.Pro92=
NM_001943.5:c.810T>C MANE Select	NP_001934.2:p.Pro270=