Canonical Allele Identifier: CA2628213768

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711019-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711019C>A , CM000677.2:g.44711019C>A	GRCh38
NC_000015.9:g.45003217C>A , CM000677.1:g.45003217C>A	GRCh37
NC_000015.8:g.42790509C>A	NCBI36
NG_012920.1:g.4533C>A
NG_012920.2:g.4543C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-254+1G>T MANE Select	ENSP00000508024.1:n.-254+1G>T
ENST00000558573.1:n.297+1G>T
XM_011521338.1:c.-254+1G>T	XP_011519640.1:n.-254+1G>T
XM_011521339.1:c.-135+1G>T	XP_011519641.1:n.-135+1G>T
XM_011521340.1:c.-76+1G>T	XP_011519642.1:n.-76+1G>T
XM_011521343.1:c.-338+1G>T	XP_011519645.1:n.-338+1G>T
XM_011521345.1:c.-309+1G>T	XP_011519647.1:n.-309+1G>T
XM_011521338.3:c.-254+1G>T	XP_011519640.1:n.-254+1G>T
XM_011521339.3:c.-135+1G>T	XP_011519641.1:n.-135+1G>T
XM_011521340.3:c.-76+1G>T	XP_011519642.1:n.-76+1G>T
XM_011521343.3:c.-338+1G>T	XP_011519645.1:n.-338+1G>T
XM_011521345.3:c.-309+1G>T	XP_011519647.1:n.-309+1G>T
NM_001387260.1:c.-76+313G>T	NP_001374189.1:n.-76+313G>T
NM_001387261.1:c.-76+1G>T	NP_001374190.1:n.-76+1G>T
NM_001387262.1:c.-343G>T	NP_001374191.1:n.-343G>T
NM_001387263.1:c.-254+1G>T MANE Select	NP_001374192.1:n.-254+1G>T