Canonical Allele Identifier: CA490206519

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711189-T-A
• MyVariant Identifiers: chr15:g.45003387T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711189T>A , CM000677.2:g.44711189T>A	GRCh38
NC_000015.9:g.45003387T>A , CM000677.1:g.45003387T>A	GRCh37
NC_000015.8:g.42790679T>A	NCBI36
NG_012920.1:g.4703T>A
NG_012920.2:g.4713T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-423A>T MANE Select	ENSP00000508024.1:n.-423A>T
ENST00000558573.1:n.128A>T
XM_011521338.1:c.-423A>T	XP_011519640.1:n.-423A>T
XM_011521339.1:c.-304A>T	XP_011519641.1:n.-304A>T
XM_011521340.1:c.-245A>T	XP_011519642.1:n.-245A>T
XM_011521343.1:c.-507A>T	XP_011519645.1:n.-507A>T
XM_011521345.1:c.-478A>T	XP_011519647.1:n.-478A>T
XM_011521338.3:c.-423A>T	XP_011519640.1:n.-423A>T
XM_011521339.3:c.-304A>T	XP_011519641.1:n.-304A>T
XM_011521340.3:c.-245A>T	XP_011519642.1:n.-245A>T
XM_011521343.3:c.-507A>T	XP_011519645.1:n.-507A>T
XM_011521345.3:c.-478A>T	XP_011519647.1:n.-478A>T
NM_001387260.1:c.-76+143A>T	NP_001374189.1:n.-76+143A>T
NM_001387261.1:c.-245A>T	NP_001374190.1:n.-245A>T
NM_001387262.1:c.-513A>T	NP_001374191.1:n.-513A>T
NM_001387263.1:c.-423A>T MANE Select	NP_001374192.1:n.-423A>T