Canonical Allele Identifier: CA2628213766

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711015-C-A

Genomic Alleles

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

Transcript Alleles

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