Canonical Allele Identifier: CA115332
Gene: GJC2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.228158026C>T
GRCh37 chr1:g.228345727C>T
Revel Score:
ENST00000366714 (MANE Select) 0.868
gnomAD v2:
1:228345727 C / T
gnomAD v3:
1:228158026 C / T
gnomAD v4:
chr1-228158026-C-T
Joint Max Group AF 0.00001455 (NFE)
Exomes Max Group AF 0.0000146 (NFE)
ClinVar RCV:
RCV000002153
ClinVar Variation:
2072
dbSNP:
74315312
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228158026C>T , CM000663.2:g.228158026C>T GRCh38
NC_000001.10:g.228345727C>T , CM000663.1:g.228345727C>T GRCh37
NC_000001.9:g.226412350C>T NCBI36
NG_011838.1:g.13175C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366714.3:c.268C>T MANE Select ENSP00000355675.2:p.Pro90Ser
ENST00000366714.2:c.268C>T ENSP00000355675.2:p.Pro90Ser
NM_020435.3:c.268C>T NP_065168.2:p.Pro90Ser
NM_020435.4:c.268C>T MANE Select NP_065168.2:p.Pro90Ser
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