Canonical Allele Identifier: CA1087514609

Gene: PPT2 PPT2-EGFL8

Linked Data

• dbSNP Id: rs1783823607
• gnomAD v3: 6-32156636-A-T
• gnomAD v4: 6-32156636-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32156636A>T , CM000668.2:g.32156636A>T	GRCh38
NC_000006.11:g.32124413A>T , CM000668.1:g.32124413A>T	GRCh37
NC_000006.10:g.32232391A>T	NCBI36
NG_042283.1:g.8185A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324816.11:c.541+658A>T (PPT2) MANE Select	ENSP00000320528.6:n.541+658A>T
ENST00000324816.10:c.541+658A>T (PPT2)	ENSP00000320528.6:n.541+658A>T
ENST00000361568.6:c.559+658A>T (PPT2)	ENSP00000354608.2:n.559+658A>T
ENST00000375137.6:c.541+658A>T (PPT2)	ENSP00000364279.2:n.541+658A>T
ENST00000375143.6:c.541+658A>T (PPT2)	ENSP00000364285.2:n.541+658A>T
ENST00000395523.5:c.541+658A>T (PPT2)	ENSP00000378894.1:n.541+658A>T
ENST00000422437.5:c.541+658A>T (PPT2-EGFL8)	ENSP00000457534.1:n.541+658A>T
ENST00000424499.1:c.307+658A>T (PPT2)	ENSP00000409877.1:n.307+658A>T
ENST00000428388.6:c.541+658A>T (PPT2-EGFL8)	ENSP00000455087.1:n.541+658A>T
ENST00000436118.2:c.*93+658A>T (PPT2)	ENSP00000395456.2:n.*93+658A>T
ENST00000453656.6:n.672+658A>T (PPT2-EGFL8)
ENST00000478521.5:n.490+658A>T (PPT2)
ENST00000493548.5:n.677+658A>T (PPT2)
ENST00000583227.5:c.*93+658A>T (PPT2-EGFL8)	ENSP00000461909.1:n.*93+658A>T
ENST00000585246.5:c.*93+658A>T (PPT2-EGFL8)	ENSP00000463570.1:n.*93+658A>T
NM_001204103.1:c.541+658A>T (PPT2)	NP_001191032.1:n.541+658A>T
NM_005155.6:c.541+658A>T (PPT2)	NP_005146.4:n.541+658A>T
NM_138717.2:c.559+658A>T (PPT2)	NP_619731.2:n.559+658A>T
NR_037861.1:n.955+658A>T (PPT2-EGFL8)
NM_005155.7:c.541+658A>T (PPT2) MANE Select	NP_005146.4:n.541+658A>T
NM_001204103.2:c.541+658A>T (PPT2)	NP_001191032.1:n.541+658A>T
NM_138717.3:c.559+658A>T (PPT2)	NP_619731.2:n.559+658A>T