Canonical Allele Identifier: CA297699749
Gene: DSG2 HGNC NCBI

Linked Data

dbSNP Id: rs1041773265
gnomAD v2: 18-29121318-G-A
gnomAD v3: 18-31541355-G-A
gnomAD v4: 18-31541355-G-A
MyVariant Identifiers: chr18:g.29121318G>A (hg19) chr18:g.31541355G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541355G>A , CM000680.2:g.31541355G>A GRCh38
NC_000018.9:g.29121318G>A , CM000680.1:g.29121318G>A GRCh37
NC_000018.8:g.27375316G>A NCBI36
NG_007072.3:g.48114G>A , LRG_397:g.48114G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2001+41G>A MANE Select ENSP00000261590.8:n.2001+41G>A
ENST00000261590.12:c.2001+41G>A ENSP00000261590.8:n.2001+41G>A
NM_001943.3:c.2001+41G>A , LRG_397t1:c.2001+41G>A NP_001934.2:n.2001+41G>A
NM_001943.4:c.2001+41G>A NP_001934.2:n.2001+41G>A
XM_024451095.1:c.1467+41G>A XP_024306863.1:n.1467+41G>A
NM_001943.5:c.2001+41G>A MANE Select NP_001934.2:n.2001+41G>A
Search 100 bp 5'
Search 100 bp 3'