Canonical Allele Identifier: CA402139653

Gene: DSG2

Linked Data

• ClinVar Variation Id: 921008
• ClinVar RCV Id: RCV001180148 ; RCV003631181 ; RCV004006627
• dbSNP Id: rs1382682032
• gnomAD v3: 18-31541270-A-T
• gnomAD v4: 18-31541270-A-T
• MyVariant Identifiers: chr18:g.29121233A>T (hg19) ; chr18:g.31541270A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31541270A>T , CM000680.2:g.31541270A>T	GRCh38
NC_000018.9:g.29121233A>T , CM000680.1:g.29121233A>T	GRCh37
NC_000018.8:g.27375231A>T	NCBI36
NG_007072.3:g.48029A>T , LRG_397:g.48029A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.1957A>T MANE Select	ENSP00000261590.8:p.Met653Leu
ENST00000261590.12:c.1957A>T	ENSP00000261590.8:p.Met653Leu
NM_001943.3:c.1957A>T , LRG_397t1:c.1957A>T	NP_001934.2:p.Met653Leu
NM_001943.4:c.1957A>T	NP_001934.2:p.Met653Leu
XM_024451095.1:c.1423A>T	XP_024306863.1:p.Met475Leu
NM_001943.5:c.1957A>T MANE Select	NP_001934.2:p.Met653Leu