Canonical Allele Identifier: CA629148992
Gene: DSG2 HGNC NCBI

Linked Data

dbSNP Id: rs1288740496
gnomAD v2: 18-29121164-CT-C
MyVariant Identifiers: chr18:g.29121165del (hg19) chr18:g.31541202del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541205del , CM000680.2:g.31541205del GRCh38
NC_000018.9:g.29121168del , CM000680.1:g.29121168del GRCh37
NC_000018.8:g.27375166del NCBI36
NG_007072.3:g.47964del , LRG_397:g.47964del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1892del MANE Select ENSP00000261590.8:p.Leu631TyrfsTer3
ENST00000261590.12:c.1892del ENSP00000261590.8:p.Leu631TyrfsTer3
NM_001943.3:c.1892del , LRG_397t1:c.1892del NP_001934.2:p.Leu631TyrfsTer3
NM_001943.4:c.1892del NP_001934.2:p.Leu631TyrfsTer3
XM_024451095.1:c.1358del XP_024306863.1:p.Leu453TyrfsTer3
NM_001943.5:c.1892del MANE Select NP_001934.2:p.Leu631TyrfsTer3
Search 100 bp 5'
Search 100 bp 3'