Canonical Allele Identifier: CA115331
Gene: GJC2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.228158615T>C
GRCh37 chr1:g.228346316T>C
Revel Score:
ENST00000366714 (MANE Select) 0.920
gnomAD v2:
1:228346316 T / C
gnomAD v4:
chr1-228158615-T-C
Joint Max Group AF 0.00000359 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar RCV:
RCV000002152
RCV002287318
ClinVar Variation:
2071
dbSNP:
74315311
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228158615T>C , CM000663.2:g.228158615T>C GRCh38
NC_000001.10:g.228346316T>C , CM000663.1:g.228346316T>C GRCh37
NC_000001.9:g.226412939T>C NCBI36
NG_011838.1:g.13764T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366714.3:c.857T>C MANE Select ENSP00000355675.2:p.Met286Thr
ENST00000366714.2:c.857T>C ENSP00000355675.2:p.Met286Thr
NM_020435.3:c.857T>C NP_065168.2:p.Met286Thr
NM_020435.4:c.857T>C MANE Select NP_065168.2:p.Met286Thr
Search 100 bp 5'
Search 100 bp 3'