Canonical Allele Identifier: CA395196247

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.14765086G>T , CM000678.2:g.14765086G>T GRCh38
NC_000016.9:g.14858943G>T , CM000678.1:g.14858943G>T GRCh37
NC_000016.8:g.14766444G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000529166.6:c.783G>T (NPIPA2) MANE Select ENSP00000432029.1:p.Arg261Ser
ENST00000529166.5:c.783G>T (NPIPA2) ENSP00000432029.1:p.Arg261Ser
ENST00000553201.1:c.726G>T (NPIPA2) ENSP00000446882.1:p.Arg242Ser
ENST00000618714.4:c.63+14211G>T (NPIPA1) ENSP00000484994.1:n.63+14211G>T
ENST00000619019.3:c.902-176G>T (NPIPA3) ENSP00000479725.1:n.902-176G>T
ENST00000621766.4:c.726G>T (NPIPA3) ENSP00000483111.1:p.Arg242Ser
NM_001277324.1:c.726G>T (NPIPA2) NP_001264253.1:p.Arg242Ser
XM_005255489.2:c.726G>T (NPIPA2) XP_005255546.1:p.Arg242Ser
XM_006720917.2:c.*97G>T (NPIPA2) XP_006720980.2:n.*97G>T
XR_933118.1:n.168+1316C>A
XR_933119.1:n.168+1316C>A
XR_933120.1:n.168+1316C>A
XM_011522595.2:c.*229G>T (NPIPA2) XP_011520897.1:n.*229G>T
XM_024450381.1:c.870G>T (NPIPA2) XP_024306149.1:p.Arg290Ser
XM_024450382.1:c.870G>T (NPIPA2) XP_024306150.1:p.Arg290Ser
XM_024450383.1:c.870G>T (NPIPA2) XP_024306151.1:p.Arg290Ser
XM_024450384.1:c.807G>T (NPIPA2) XP_024306152.1:p.Arg269Ser
XM_024450385.1:c.783G>T (NPIPA2) XP_024306153.1:p.Arg261Ser
XM_024450386.1:c.783G>T (NPIPA2) XP_024306154.1:p.Arg261Ser
XM_024450387.1:c.870G>T (NPIPA2) XP_024306155.1:p.Arg290Ser
XM_024450388.1:c.738G>T (NPIPA2) XP_024306156.1:p.Arg246Ser
XR_933118.2:n.168+1316C>A
XR_933120.2:n.168+1316C>A
NM_001277324.3:c.726G>T (NPIPA2) NP_001264253.1:p.Arg242Ser
NM_001395485.2:c.783G>T (NPIPA2) MANE Select NP_001382414.1:p.Arg261Ser
NM_001395486.2:c.783G>T (NPIPA2) NP_001382415.1:p.Arg261Ser