×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA409093573
Gene: JPH2
HGNC
NCBI
Linked Data
dbSNP Id:
rs2072596287
MyVariant Identifiers:
chr20:g.42788591A>T (hg19)
chr20:g.44159951A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.44159951A>T , CM000682.2:g.44159951A>T
GRCh38
NC_000020.10:g.42788591A>T , CM000682.1:g.42788591A>T
GRCh37
NC_000020.9:g.42222005A>T
NCBI36
NG_031867.1:g.32628T>A , LRG_394:g.32628T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000372980.4:c.836T>A
MANE Select
ENSP00000362071.3:p.Phe279Tyr
ENST00000372980.3:c.836T>A
ENSP00000362071.3:p.Phe279Tyr
NM_020433.4:c.836T>A , LRG_394t1:c.836T>A
NP_065166.2:p.Phe279Tyr
XM_006723832.2:c.836T>A
XP_006723895.1:p.Phe279Tyr
NM_020433.5:c.836T>A
MANE Select
NP_065166.2:p.Phe279Tyr
Search 100 bp 5'
Search 100 bp 3'