Canonical Allele Identifier: CA490206572

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711207-T-A
• MyVariant Identifiers: chr15:g.45003405T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711207T>A , CM000677.2:g.44711207T>A	GRCh38
NC_000015.9:g.45003405T>A , CM000677.1:g.45003405T>A	GRCh37
NC_000015.8:g.42790697T>A	NCBI36
NG_012920.1:g.4721T>A
NG_012920.2:g.4731T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-441A>T MANE Select	ENSP00000508024.1:n.-441A>T
ENST00000558573.1:n.110A>T
XM_011521338.1:c.-441A>T	XP_011519640.1:n.-441A>T
XM_011521339.1:c.-322A>T	XP_011519641.1:n.-322A>T
XM_011521340.1:c.-263A>T	XP_011519642.1:n.-263A>T
XM_011521343.1:c.-525A>T	XP_011519645.1:n.-525A>T
XM_011521345.1:c.-496A>T	XP_011519647.1:n.-496A>T
XM_011521338.3:c.-441A>T	XP_011519640.1:n.-441A>T
XM_011521339.3:c.-322A>T	XP_011519641.1:n.-322A>T
XM_011521340.3:c.-263A>T	XP_011519642.1:n.-263A>T
XM_011521343.3:c.-525A>T	XP_011519645.1:n.-525A>T
XM_011521345.3:c.-496A>T	XP_011519647.1:n.-496A>T
NM_001387260.1:c.-76+125A>T	NP_001374189.1:n.-76+125A>T
NM_001387261.1:c.-263A>T	NP_001374190.1:n.-263A>T
NM_001387262.1:c.-531A>T	NP_001374191.1:n.-531A>T
NM_001387263.1:c.-441A>T MANE Select	NP_001374192.1:n.-441A>T