Canonical Allele Identifier: CA2173753165
Gene: PATL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711074G= , CM000677.2:g.44711074G= GRCh38
NC_000015.9:g.45003272G= , CM000677.1:g.45003272G= GRCh37
NC_000015.8:g.42790564G= NCBI36
NG_012920.1:g.4588G=
NG_012920.2:g.4598G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682850.1:c.-308C= MANE Select ENSP00000508024.1:n.-308C=
ENST00000558573.1:n.243C=
XM_011521338.1:c.-308C= XP_011519640.1:n.-308C=
XM_011521339.1:c.-189C= XP_011519641.1:n.-189C=
XM_011521340.1:c.-130C= XP_011519642.1:n.-130C=
XM_011521343.1:c.-392C= XP_011519645.1:n.-392C=
XM_011521345.1:c.-363C= XP_011519647.1:n.-363C=
XM_011521338.3:c.-308C= XP_011519640.1:n.-308C=
XM_011521339.3:c.-189C= XP_011519641.1:n.-189C=
XM_011521340.3:c.-130C= XP_011519642.1:n.-130C=
XM_011521343.3:c.-392C= XP_011519645.1:n.-392C=
XM_011521345.3:c.-363C= XP_011519647.1:n.-363C=
NM_001387260.1:c.-76+258C= NP_001374189.1:n.-76+258C=
NM_001387261.1:c.-130C= NP_001374190.1:n.-130C=
NM_001387262.1:c.-398C= NP_001374191.1:n.-398C=
NM_001387263.1:c.-308C= MANE Select NP_001374192.1:n.-308C=