Canonical Allele Identifier: CA490206484

Gene: PATL2

Linked Data

• dbSNP Id: rs1422281727
• gnomAD v3: 15-44711177-T-A
• gnomAD v4: 15-44711177-T-A
• MyVariant Identifiers: chr15:g.45003375T>A (hg19) ; chr15:g.44711177T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711177T>A , CM000677.2:g.44711177T>A	GRCh38
NC_000015.9:g.45003375T>A , CM000677.1:g.45003375T>A	GRCh37
NC_000015.8:g.42790667T>A	NCBI36
NG_012920.1:g.4691T>A
NG_012920.2:g.4701T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-411A>T MANE Select	ENSP00000508024.1:n.-411A>T
ENST00000558573.1:n.140A>T
XM_011521338.1:c.-411A>T	XP_011519640.1:n.-411A>T
XM_011521339.1:c.-292A>T	XP_011519641.1:n.-292A>T
XM_011521340.1:c.-233A>T	XP_011519642.1:n.-233A>T
XM_011521343.1:c.-495A>T	XP_011519645.1:n.-495A>T
XM_011521345.1:c.-466A>T	XP_011519647.1:n.-466A>T
XM_011521338.3:c.-411A>T	XP_011519640.1:n.-411A>T
XM_011521339.3:c.-292A>T	XP_011519641.1:n.-292A>T
XM_011521340.3:c.-233A>T	XP_011519642.1:n.-233A>T
XM_011521343.3:c.-495A>T	XP_011519645.1:n.-495A>T
XM_011521345.3:c.-466A>T	XP_011519647.1:n.-466A>T
NM_001387260.1:c.-76+155A>T	NP_001374189.1:n.-76+155A>T
NM_001387261.1:c.-233A>T	NP_001374190.1:n.-233A>T
NM_001387262.1:c.-501A>T	NP_001374191.1:n.-501A>T
NM_001387263.1:c.-411A>T MANE Select	NP_001374192.1:n.-411A>T