Canonical Allele Identifier: CA708565098

Gene: JDP2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75449761T>A , CM000676.2:g.75449761T>A	GRCh38
NC_000014.8:g.75916464T>A , CM000676.1:g.75916464T>A	GRCh37
NC_000014.7:g.74986217T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651602.1:c.201+11640T>A MANE Select	ENSP00000498745.1:n.201+11640T>A
ENST00000267569.5:c.234+11640T>A	ENSP00000267569.5:n.234+11640T>A
ENST00000419727.6:c.201+11640T>A	ENSP00000415558.2:n.201+11640T>A
ENST00000435893.6:c.201+11640T>A	ENSP00000399587.2:n.201+11640T>A
ENST00000437176.5:c.201+11640T>A	ENSP00000409787.1:n.201+11640T>A
ENST00000559060.5:c.201+11640T>A	ENSP00000452769.1:n.201+11640T>A
NM_001135047.1:c.201+11640T>A	NP_001128519.1:n.201+11640T>A
NM_001135048.1:c.201+11640T>A	NP_001128520.1:n.201+11640T>A
NM_001135049.1:c.234+11640T>A	NP_001128521.1:n.234+11640T>A
NM_130469.3:c.201+11640T>A	NP_569736.1:n.201+11640T>A
XM_005267332.3:c.201+11640T>A	XP_005267389.1:n.201+11640T>A
XM_006720032.2:c.234+11640T>A	XP_006720095.1:n.234+11640T>A
XM_005267332.4:c.201+11640T>A	XP_005267389.1:n.201+11640T>A
XM_017020971.1:c.330+11640T>A	XP_016876460.1:n.330+11640T>A
XM_017020972.1:c.234+11640T>A	XP_016876461.1:n.234+11640T>A
XM_017020973.1:c.201+11640T>A	XP_016876462.1:n.201+11640T>A
XM_017020974.1:c.201+11640T>A	XP_016876463.1:n.201+11640T>A
XM_017020975.2:c.201+11640T>A	XP_016876464.1:n.201+11640T>A
NM_001135048.2:c.201+11640T>A MANE Select	NP_001128520.1:n.201+11640T>A
NM_001135047.2:c.201+11640T>A	NP_001128519.1:n.201+11640T>A