Canonical Allele Identifier: CA402135389

Gene: DSG2

Linked Data

• ClinVar Variation Id: 927864
• ClinVar RCV Id: RCV001191430
• dbSNP Id: rs2073150960
• MyVariant Identifiers: chr18:g.29104675A>C (hg19) ; chr18:g.31524712A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524712A>C , CM000680.2:g.31524712A>C	GRCh38
NC_000018.9:g.29104675A>C , CM000680.1:g.29104675A>C	GRCh37
NC_000018.8:g.27358673A>C	NCBI36
NG_007072.3:g.31471A>C , LRG_397:g.31471A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.669A>C
ENST00000683614.2:n.669A>C
ENST00000682087.1:c.669A>C
ENST00000683614.1:c.669A>C
ENST00000261590.13:c.838A>C MANE Select	ENSP00000261590.8:p.Met280Leu
ENST00000261590.12:c.838A>C	ENSP00000261590.8:p.Met280Leu
NM_001943.3:c.838A>C , LRG_397t1:c.838A>C	NP_001934.2:p.Met280Leu
NM_001943.4:c.838A>C	NP_001934.2:p.Met280Leu
XM_024451095.1:c.304A>C	XP_024306863.1:p.Met102Leu
NM_001943.5:c.838A>C MANE Select	NP_001934.2:p.Met280Leu