Canonical Allele Identifier: CA4773937
Community Standard Title: NM_024870.4(PREX2):c.2385C>T (p.Phe795=)
Gene: PREX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.68097033C>T , CM000670.2:g.68097033C>T GRCh38
NC_000008.10:g.69009268C>T , CM000670.1:g.69009268C>T GRCh37
NC_000008.9:g.69171822C>T NCBI36
NG_047022.1:g.150051C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024870.4:c.2385C>T MANE Select NP_079146.2:p.Phe795=
ENST00000288368.5:c.2385C>T MANE Select ENSP00000288368.4:p.Phe795=
NM_024870.2:c.2385C>T NP_079146.2:p.Phe795=
NM_024870.3:c.2385C>T NP_079146.2:p.Phe795=
NM_025170.4:c.2385C>T NP_079446.3:p.Phe795=
NM_025170.5:c.2385C>T NP_079446.3:p.Phe795=
NM_025170.6:c.2385C>T NP_079446.3:p.Phe795=
ENST00000288368.4:c.2385C>T ENSP00000288368.4:p.Phe795=
ENST00000517617.1:n.2096C>T
ENST00000529398.5:n.2412C>T
XM_011517612.1:c.2385C>T XP_011515914.1:p.Phe795=
XM_011517612.3:c.2385C>T XP_011515914.1:p.Phe795=