Canonical Allele Identifier: CA2173753154
Gene: PATL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711015C= , CM000677.2:g.44711015C= GRCh38
NC_000015.9:g.45003213C= , CM000677.1:g.45003213C= GRCh37
NC_000015.8:g.42790505C= NCBI36
NG_012920.1:g.4529C=
NG_012920.2:g.4539C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682850.1:c.-254+5G= MANE Select ENSP00000508024.1:n.-254+5G=
ENST00000558573.1:n.297+5G=
XM_011521338.1:c.-254+5G= XP_011519640.1:n.-254+5G=
XM_011521339.1:c.-135+5G= XP_011519641.1:n.-135+5G=
XM_011521340.1:c.-76+5G= XP_011519642.1:n.-76+5G=
XM_011521343.1:c.-338+5G= XP_011519645.1:n.-338+5G=
XM_011521345.1:c.-309+5G= XP_011519647.1:n.-309+5G=
XM_011521338.3:c.-254+5G= XP_011519640.1:n.-254+5G=
XM_011521339.3:c.-135+5G= XP_011519641.1:n.-135+5G=
XM_011521340.3:c.-76+5G= XP_011519642.1:n.-76+5G=
XM_011521343.3:c.-338+5G= XP_011519645.1:n.-338+5G=
XM_011521345.3:c.-309+5G= XP_011519647.1:n.-309+5G=
NM_001387260.1:c.-76+317G= NP_001374189.1:n.-76+317G=
NM_001387261.1:c.-76+5G= NP_001374190.1:n.-76+5G=
NM_001387262.1:c.-339G= NP_001374191.1:n.-339G=
NM_001387263.1:c.-254+5G= MANE Select NP_001374192.1:n.-254+5G=