Canonical Allele Identifier: CA402135321

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29104547T>C (hg19) ; chr18:g.31524584T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524584T>C , CM000680.2:g.31524584T>C	GRCh38
NC_000018.9:g.29104547T>C , CM000680.1:g.29104547T>C	GRCh37
NC_000018.8:g.27358545T>C	NCBI36
NG_007072.3:g.31343T>C , LRG_397:g.31343T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.658T>C
ENST00000683614.2:n.658T>C
ENST00000682087.1:c.658T>C
ENST00000683614.1:c.658T>C
ENST00000261590.13:c.827T>C MANE Select	ENSP00000261590.8:p.Val276Ala
ENST00000261590.12:c.827T>C	ENSP00000261590.8:p.Val276Ala
NM_001943.3:c.827T>C , LRG_397t1:c.827T>C	NP_001934.2:p.Val276Ala
NM_001943.4:c.827T>C	NP_001934.2:p.Val276Ala
XM_024451095.1:c.293T>C	XP_024306863.1:p.Val98Ala
NM_001943.5:c.827T>C MANE Select	NP_001934.2:p.Val276Ala