Canonical Allele Identifier: CA503598209

Gene: DSG2

Linked Data

• dbSNP Id: rs2073132636
• MyVariant Identifiers: chr18:g.29102164T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522201T>C , CM000680.2:g.31522201T>C	GRCh38
NC_000018.9:g.29102164T>C , CM000680.1:g.29102164T>C	GRCh37
NC_000018.8:g.27356162T>C	NCBI36
NG_007072.3:g.28960T>C , LRG_397:g.28960T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.473T>C
ENST00000682241.2:c.642T>C	ENSP00000507600.2:p.Asn214=
ENST00000683614.2:n.473T>C
ENST00000682087.1:c.473T>C
ENST00000682241.1:c.473T>C
ENST00000683614.1:c.473T>C
ENST00000683654.1:c.642T>C	ENSP00000506971.1:p.Asn214=
ENST00000684461.1:n.1312T>C
ENST00000261590.13:c.642T>C MANE Select	ENSP00000261590.8:p.Asn214=
ENST00000261590.12:c.642T>C	ENSP00000261590.8:p.Asn214=
ENST00000585206.1:c.642T>C	ENSP00000462503.1:p.Asn214=
NM_001943.3:c.642T>C , LRG_397t1:c.642T>C	NP_001934.2:p.Asn214=
NM_001943.4:c.642T>C	NP_001934.2:p.Asn214=
XM_024451095.1:c.108T>C	XP_024306863.1:p.Asn36=
NM_001943.5:c.642T>C MANE Select	NP_001934.2:p.Asn214=