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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1430801
Gene: GJC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235758
ClinVar RCV Id:
RCV001847953
RCV002500753
dbSNP Id:
rs75469429
ExAC:
1:228345567 C / T
gnomAD v2:
1-228345567-C-T
gnomAD v3:
1-228157866-C-T
gnomAD v4:
1-228157866-C-T
MyVariant Identifiers:
chr1:g.228345567C>T (hg19)
chr1:g.228157866C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.228157866C>T , CM000663.2:g.228157866C>T
GRCh38
NC_000001.10:g.228345567C>T , CM000663.1:g.228345567C>T
GRCh37
NC_000001.9:g.226412190C>T
NCBI36
NG_011838.1:g.13015C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000366714.3:c.108C>T
MANE Select
ENSP00000355675.2:p.Ile36=
ENST00000366714.2:c.108C>T
ENSP00000355675.2:p.Ile36=
NM_020435.3:c.108C>T
NP_065168.2:p.Ile36=
NM_020435.4:c.108C>T
MANE Select
NP_065168.2:p.Ile36=
Search 100 bp 5'
Search 100 bp 3'