Canonical Allele Identifier: CA13964959
Gene: JDP2 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.75469814T>C
GRCh37 chr14:g.75936517T>C
gnomAD v2:
14:75936517 T / C
gnomAD v3:
14:75469814 T / C
gnomAD v4:
chr14-75469814-T-C
Joint Max Group AF 0.51451239 (NFE)
Genomes Max Group AF 0.51614103 (NFE)
Exomes Max Group AF 0.50705164 (NFE)
dbSNP:
8215
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75469814T>C , CM000676.2:g.75469814T>C GRCh38
NC_000014.8:g.75936517T>C , CM000676.1:g.75936517T>C GRCh37
NC_000014.7:g.75006270T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651602.1:c.*339T>C MANE Select ENSP00000498745.1:n.*339T>C
ENST00000267569.5:c.*339T>C ENSP00000267569.5:n.*339T>C
ENST00000435893.6:c.*339T>C ENSP00000399587.2:n.*339T>C
ENST00000437176.5:c.*339T>C ENSP00000409787.1:n.*339T>C
NM_001135047.1:c.*339T>C NP_001128519.1:n.*339T>C
NM_001135048.1:c.*339T>C NP_001128520.1:n.*339T>C
NM_001135049.1:c.*339T>C NP_001128521.1:n.*339T>C
NM_130469.3:c.*339T>C NP_569736.1:n.*339T>C
XM_005267332.3:c.*339T>C XP_005267389.1:n.*339T>C
XM_006720032.2:c.*339T>C XP_006720095.1:n.*339T>C
XM_005267332.4:c.*339T>C XP_005267389.1:n.*339T>C
XM_017020971.1:c.*339T>C XP_016876460.1:n.*339T>C
XM_017020972.1:c.*339T>C XP_016876461.1:n.*339T>C
XM_017020973.1:c.*339T>C XP_016876462.1:n.*339T>C
XM_017020974.1:c.*339T>C XP_016876463.1:n.*339T>C
XM_017020975.2:c.*339T>C XP_016876464.1:n.*339T>C
NM_001135048.2:c.*339T>C MANE Select NP_001128520.1:n.*339T>C
NM_001135047.2:c.*339T>C NP_001128519.1:n.*339T>C
Search 100 bp 5'
Search 100 bp 3'