Canonical Allele Identifier: CA270114003

Gene: PATL2

Linked Data

• dbSNP Id: rs1012385302
• gnomAD v4: 15-44711328-T-A
• MyVariant Identifiers: chr15:g.45003526T>A (hg19) ; chr15:g.44711328T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711328T>A , CM000677.2:g.44711328T>A	GRCh38
NC_000015.9:g.45003526T>A , CM000677.1:g.45003526T>A	GRCh37
NC_000015.8:g.42790818T>A	NCBI36
NG_012920.1:g.4842T>A
NG_012920.2:g.4852T>A

Transcript Alleles

HGVS	Amino-acid Change
XM_011521338.1:c.-562A>T	XP_011519640.1:n.-562A>T
XM_011521339.1:c.-443A>T	XP_011519641.1:n.-443A>T
XM_011521340.1:c.-384A>T	XP_011519642.1:n.-384A>T
XM_011521343.1:c.-646A>T	XP_011519645.1:n.-646A>T
XM_011521345.1:c.-617A>T	XP_011519647.1:n.-617A>T
XM_011521338.3:c.-562A>T	XP_011519640.1:n.-562A>T
XM_011521339.3:c.-443A>T	XP_011519641.1:n.-443A>T
XM_011521340.3:c.-384A>T	XP_011519642.1:n.-384A>T
XM_011521343.3:c.-646A>T	XP_011519645.1:n.-646A>T
XM_011521345.3:c.-617A>T	XP_011519647.1:n.-617A>T
NM_001387260.1:c.-76+4A>T	NP_001374189.1:n.-76+4A>T