Canonical Allele Identifier: CA16617080
Gene: GJC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422570
ClinVar RCV Id: RCV000484973
dbSNP Id: rs1064795867
MyVariant Identifiers: chr1:g.228345821_228345857del (hg19) chr1:g.228158120_228158156del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228158120_228158156del , CM000663.2:g.228158120_228158156del GRCh38
NC_000001.10:g.228345821_228345857del , CM000663.1:g.228345821_228345857del GRCh37
NC_000001.9:g.226412444_226412480del NCBI36
NG_011838.1:g.13269_13305del

Transcript Alleles

HGVS Amino-acid change
ENST00000366714.3:c.362_398del MANE Select ENSP00000355675.2:p.Arg121ProfsTer?
ENST00000366714.2:c.362_398del ENSP00000355675.2:p.Arg121ProfsTer?
NM_020435.3:c.362_398del NP_065168.2:p.Arg121ProfsTer?
NM_020435.4:c.362_398del MANE Select NP_065168.2:p.Arg121ProfsTer?
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