Canonical Allele Identifier: CA4591875
Gene: PTPRN2 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.158167219A>G , CM000669.2:g.158167219A>G GRCh38
NC_000007.13:g.157959911A>G , CM000669.1:g.157959911A>G GRCh37
NC_000007.12:g.157652672A>G NCBI36
NG_029966.1:g.425572T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389418.9:c.622T>C MANE Select ENSP00000374069.4:p.Ser208Pro
ENST00000389413.7:c.622T>C ENSP00000374064.3:p.Ser208Pro
ENST00000389416.8:c.571T>C ENSP00000374067.4:p.Ser191Pro
ENST00000389418.8:c.622T>C ENSP00000374069.4:p.Ser208Pro
ENST00000404321.3:c.349T>C ENSP00000385464.3:p.Ser117Pro
ENST00000409483.5:c.508T>C ENSP00000387114.1:p.Ser170Pro
NM_001308267.1:c.508T>C NP_001295196.1:p.Ser170Pro
NM_001308268.1:c.691T>C NP_001295197.1:p.Ser231Pro
NM_002847.3:c.622T>C NP_002838.2:p.Ser208Pro
NM_002847.4:c.622T>C NP_002838.2:p.Ser208Pro
NM_130842.2:c.571T>C NP_570857.2:p.Ser191Pro
NM_130842.3:c.571T>C NP_570857.2:p.Ser191Pro
NM_130843.2:c.622T>C NP_570858.2:p.Ser208Pro
NM_130843.3:c.622T>C NP_570858.2:p.Ser208Pro
XM_011516446.1:c.622T>C XP_011514748.1:p.Ser208Pro
XM_011516447.1:c.622T>C XP_011514749.1:p.Ser208Pro
XM_011516448.1:c.622T>C XP_011514750.1:p.Ser208Pro
XM_011516449.1:c.622T>C XP_011514751.1:p.Ser208Pro
XM_011516447.2:c.622T>C XP_011514749.1:p.Ser208Pro
XM_011516448.3:c.622T>C XP_011514750.1:p.Ser208Pro
XM_011516449.2:c.622T>C XP_011514751.1:p.Ser208Pro
XM_017012475.1:c.424T>C XP_016867964.1:p.Ser142Pro
XM_017012476.1:c.622T>C XP_016867965.1:p.Ser208Pro
NM_002847.5:c.622T>C MANE Select NP_002838.2:p.Ser208Pro
NM_001308267.2:c.508T>C NP_001295196.1:p.Ser170Pro
NM_130842.4:c.571T>C NP_570857.2:p.Ser191Pro
NM_130843.4:c.622T>C NP_570858.2:p.Ser208Pro
NM_001308268.2:c.691T>C NP_001295197.1:p.Ser231Pro