Canonical Allele Identifier: CA490206019

Gene: PATL2

Linked Data

• gnomAD v4: 15-44711052-C-A
• MyVariant Identifiers: chr15:g.45003250C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711052C>A , CM000677.2:g.44711052C>A	GRCh38
NC_000015.9:g.45003250C>A , CM000677.1:g.45003250C>A	GRCh37
NC_000015.8:g.42790542C>A	NCBI36
NG_012920.1:g.4566C>A
NG_012920.2:g.4576C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-286G>T MANE Select	ENSP00000508024.1:n.-286G>T
ENST00000558573.1:n.265G>T
XM_011521338.1:c.-286G>T	XP_011519640.1:n.-286G>T
XM_011521339.1:c.-167G>T	XP_011519641.1:n.-167G>T
XM_011521340.1:c.-108G>T	XP_011519642.1:n.-108G>T
XM_011521343.1:c.-370G>T	XP_011519645.1:n.-370G>T
XM_011521345.1:c.-341G>T	XP_011519647.1:n.-341G>T
XM_011521338.3:c.-286G>T	XP_011519640.1:n.-286G>T
XM_011521339.3:c.-167G>T	XP_011519641.1:n.-167G>T
XM_011521340.3:c.-108G>T	XP_011519642.1:n.-108G>T
XM_011521343.3:c.-370G>T	XP_011519645.1:n.-370G>T
XM_011521345.3:c.-341G>T	XP_011519647.1:n.-341G>T
NM_001387260.1:c.-76+280G>T	NP_001374189.1:n.-76+280G>T
NM_001387261.1:c.-108G>T	NP_001374190.1:n.-108G>T
NM_001387262.1:c.-376G>T	NP_001374191.1:n.-376G>T
NM_001387263.1:c.-286G>T MANE Select	NP_001374192.1:n.-286G>T