Canonical Allele Identifier: CA490205925

Gene: PATL2

Linked Data

• dbSNP Id: rs2141283230
• gnomAD v3: 15-44711029-G-A
• gnomAD v4: 15-44711029-G-A
• MyVariant Identifiers: chr15:g.45003227G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711029G>A , CM000677.2:g.44711029G>A	GRCh38
NC_000015.9:g.45003227G>A , CM000677.1:g.45003227G>A	GRCh37
NC_000015.8:g.42790519G>A	NCBI36
NG_012920.1:g.4543G>A
NG_012920.2:g.4553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.-263C>T MANE Select	ENSP00000508024.1:n.-263C>T
ENST00000558573.1:n.288C>T
XM_011521338.1:c.-263C>T	XP_011519640.1:n.-263C>T
XM_011521339.1:c.-144C>T	XP_011519641.1:n.-144C>T
XM_011521340.1:c.-85C>T	XP_011519642.1:n.-85C>T
XM_011521343.1:c.-347C>T	XP_011519645.1:n.-347C>T
XM_011521345.1:c.-318C>T	XP_011519647.1:n.-318C>T
XM_011521338.3:c.-263C>T	XP_011519640.1:n.-263C>T
XM_011521339.3:c.-144C>T	XP_011519641.1:n.-144C>T
XM_011521340.3:c.-85C>T	XP_011519642.1:n.-85C>T
XM_011521343.3:c.-347C>T	XP_011519645.1:n.-347C>T
XM_011521345.3:c.-318C>T	XP_011519647.1:n.-318C>T
NM_001387260.1:c.-76+303C>T	NP_001374189.1:n.-76+303C>T
NM_001387261.1:c.-85C>T	NP_001374190.1:n.-85C>T
NM_001387262.1:c.-353C>T	NP_001374191.1:n.-353C>T
NM_001387263.1:c.-263C>T MANE Select	NP_001374192.1:n.-263C>T