Canonical Allele Identifier: CA402135195

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29104514T>C (hg19) ; chr18:g.31524551T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524551T>C , CM000680.2:g.31524551T>C	GRCh38
NC_000018.9:g.29104514T>C , CM000680.1:g.29104514T>C	GRCh37
NC_000018.8:g.27358512T>C	NCBI36
NG_007072.3:g.31310T>C , LRG_397:g.31310T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.625T>C
ENST00000683614.2:n.625T>C
ENST00000682087.1:c.625T>C
ENST00000683614.1:c.625T>C
ENST00000261590.13:c.794T>C MANE Select	ENSP00000261590.8:p.Val265Ala
ENST00000261590.12:c.794T>C	ENSP00000261590.8:p.Val265Ala
NM_001943.3:c.794T>C , LRG_397t1:c.794T>C	NP_001934.2:p.Val265Ala
NM_001943.4:c.794T>C	NP_001934.2:p.Val265Ala
XM_024451095.1:c.260T>C	XP_024306863.1:p.Val87Ala
NM_001943.5:c.794T>C MANE Select	NP_001934.2:p.Val265Ala