Allele Registry

Canonical Allele Identifier: CA212786

Gene: GJC2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.228158672_228158705del

GRCh38 chr1:g.228158659_228158692del

GRCh37 chr1:g.228346373_228346406del

GRCh37 chr1:g.228346360_228346393del

Linked Data - Sequence & Population

gnomAD v2:

1:228346359 CCGCCGCGGCCCCCCGGCCTCCGCCCCCGCCCCCG / C

gnomAD v4:

chr1-228158658-CCGCCGCGGCCCCCCGGCCTCCGCCCCCGCCCCCG-C

Joint Max Group AF 0.00006297 (SAS)

Exomes Max Group AF 0.00006648 (SAS)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000002157

RCV001781168

ClinVar Variation:

2076

dbSNP:

796065028

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.228158672_228158705del , CM000663.2:g.228158672_228158705del	GRCh38
NC_000001.10:g.228346373_228346406del , CM000663.1:g.228346373_228346406del	GRCh37
NC_000001.9:g.226412996_226413029del	NCBI36
NG_011838.1:g.13821_13854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366714.3:c.914_947del MANE Select	ENSP00000355675.2:p.Pro305ArgfsTer?
ENST00000366714.2:c.914_947del	ENSP00000355675.2:p.Pro305ArgfsTer?
NM_020435.3:c.914_947del	NP_065168.2:p.Pro305ArgfsTer?
NM_020435.4:c.914_947del MANE Select	NP_065168.2:p.Pro305ArgfsTer?

Search 100 bp 5'

Search 100 bp 3'