Canonical Allele Identifier: CA39430077

Gene: PCNX2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.233204408A>G , CM000663.2:g.233204408A>G	GRCh38
NC_000001.10:g.233340154A>G , CM000663.1:g.233340154A>G	GRCh37
NC_000001.9:g.231406777A>G	NCBI36
NG_050912.1:g.96328T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258229.14:c.2863+4110T>C MANE Select	ENSP00000258229.8:n.2863+4110T>C
ENST00000258229.13:c.2863+4110T>C	ENSP00000258229.8:n.2863+4110T>C
ENST00000324142.4:n.1070-2158T>C
ENST00000430153.5:c.262+4110T>C	ENSP00000394703.2:n.262+4110T>C
ENST00000475463.6:c.1008+4110T>C
ENST00000488780.6:c.262+4110T>C	ENSP00000430820.1:n.262+4110T>C
ENST00000517808.1:c.185+4110T>C
ENST00000518351.2:c.370+4110T>C	ENSP00000429231.1:n.370+4110T>C
NM_014801.3:c.2863+4110T>C	NP_055616.3:n.2863+4110T>C
XM_005273272.2:c.2254+4110T>C	XP_005273329.1:n.2254+4110T>C
XM_006711816.2:c.2863+4110T>C	XP_006711879.1:n.2863+4110T>C
XM_011544278.1:c.775+4110T>C	XP_011542580.1:n.775+4110T>C
XR_247042.2:n.3093+4110T>C
XR_247102.1:n.198-1907A>G
XR_426918.2:n.3093+4110T>C
XR_426919.2:n.3093+4110T>C
XR_949159.1:n.3093+4110T>C
XR_949160.1:n.3093+4110T>C
XR_949161.1:n.3093+4110T>C
XM_006711816.3:c.2863+4110T>C	XP_006711879.1:n.2863+4110T>C
XM_011544278.2:c.637+4110T>C	XP_011542580.2:n.637+4110T>C
XM_017002391.1:c.2254+4110T>C	XP_016857880.1:n.2254+4110T>C
XM_017002392.1:c.-425+4110T>C	XP_016857881.1:n.-425+4110T>C
XR_001737429.1:n.2920+4110T>C
XR_001737430.1:n.2920+4110T>C
XR_001737431.1:n.2920+4110T>C
XR_001737432.2:n.3115+4110T>C
XR_247042.3:n.2920+4110T>C
XR_426919.3:n.2920+4110T>C
NM_014801.4:c.2863+4110T>C MANE Select	NP_055616.3:n.2863+4110T>C