Canonical Allele Identifier: CA11101859

Gene: INPP5D PDE12

Linked Data

• dbSNP Id: rs10933436
• gnomAD v2: 2-233998481-C-A
• gnomAD v3: 2-233133771-C-A
• gnomAD v4: 2-233133771-C-A
• MyVariant Identifiers: chr2:g.233998481C>A (hg19) ; chr2:g.233133771C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233133771C>A , CM000664.2:g.233133771C>A	GRCh38
NC_000002.11:g.233998481C>A , CM000664.1:g.233998481C>A	GRCh37
NC_000002.10:g.233706725C>A	NCBI36
NG_033988.1:g.78805C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000445964.6:c.665+3123C>A (INPP5D) MANE Select	ENSP00000405338.2:n.665+3123C>A
ENST00000359570.9:c.662+3123C>A (INPP5D)	ENSP00000352575.7:n.662+3123C>A
ENST00000445964.5:c.665+3123C>A (INPP5D)	ENSP00000405338.2:n.665+3123C>A
ENST00000451407.4:n.778+3123C>A (INPP5D)
NM_001017915.2:c.665+3123C>A (PDE12)	NP_001017915.1:n.665+3123C>A
NM_005541.4:c.662+3123C>A (PDE12)	NP_005532.2:n.662+3123C>A
XM_011511128.1:c.665+3123C>A (PDE12)	XP_011509430.1:n.665+3123C>A
XM_017004004.1:c.-873+3123C>A (PDE12)	XP_016859493.1:n.-873+3123C>A
NM_001017915.3:c.665+3123C>A (PDE12) MANE Select	NP_001017915.1:n.665+3123C>A
NM_005541.5:c.662+3123C>A (PDE12)	NP_005532.2:n.662+3123C>A