Canonical Allele Identifier: CA392240689

Gene: PATL2

Linked Data

• ClinVar Variation Id: 444050
• ClinVar RCV Id: RCV000512641
• dbSNP Id: rs1555385717
• MyVariant Identifiers: chr15:g.44961176A>G (hg19) ; chr15:g.44668978A>G (hg38)
• PubMed: PMID:28965849

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44668978A>G , CM000677.2:g.44668978A>G	GRCh38
NC_000015.9:g.44961176A>G , CM000677.1:g.44961176A>G	GRCh37
NC_000015.8:g.42748468A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.1224+2T>C MANE Select	ENSP00000508024.1:n.1224+2T>C
ENST00000434130.6:c.1224+2T>C	ENSP00000416673.1:n.1224+2T>C
ENST00000434130.5:c.1224+2T>C	ENSP00000416673.1:n.1224+2T>C
ENST00000560775.5:c.1224+2T>C	ENSP00000453915.1:n.1224+2T>C
ENST00000560780.1:c.657+2T>C	ENSP00000453695.1:n.657+2T>C
NM_001145112.1:c.1224+2T>C	NP_001138584.1:n.1224+2T>C
XM_005254224.2:c.1224+2T>C	XP_005254281.1:n.1224+2T>C
XM_011521336.1:c.1224+2T>C	XP_011519638.1:n.1224+2T>C
XM_011521337.1:c.1215+2T>C	XP_011519639.1:n.1215+2T>C
XM_011521338.1:c.1224+2T>C	XP_011519640.1:n.1224+2T>C
XM_011521339.1:c.1224+2T>C	XP_011519641.1:n.1224+2T>C
XM_011521340.1:c.1224+2T>C	XP_011519642.1:n.1224+2T>C
XM_011521341.1:c.1224+2T>C	XP_011519643.1:n.1224+2T>C
XM_011521342.1:c.1002+2T>C	XP_011519644.1:n.1002+2T>C
XM_011521343.1:c.972+2T>C	XP_011519645.1:n.972+2T>C
XM_011521344.1:c.972+2T>C	XP_011519646.1:n.972+2T>C
XM_011521345.1:c.963+2T>C	XP_011519647.1:n.963+2T>C
XM_011521346.1:c.789+2T>C	XP_011519648.1:n.789+2T>C
XM_011521347.1:c.657+2T>C	XP_011519649.1:n.657+2T>C
XM_011521348.1:c.657+2T>C	XP_011519650.1:n.657+2T>C
NM_001330283.1:c.657+2T>C	NP_001317212.1:n.657+2T>C
XM_011521336.2:c.1338+2T>C	XP_011519638.2:n.1338+2T>C
XM_011521337.2:c.1329+2T>C	XP_011519639.2:n.1329+2T>C
XM_011521338.3:c.1224+2T>C	XP_011519640.1:n.1224+2T>C
XM_011521339.3:c.1224+2T>C	XP_011519641.1:n.1224+2T>C
XM_011521340.3:c.1224+2T>C	XP_011519642.1:n.1224+2T>C
XM_011521342.2:c.1002+2T>C	XP_011519644.1:n.1002+2T>C
XM_011521343.3:c.972+2T>C	XP_011519645.1:n.972+2T>C
XM_011521344.3:c.972+2T>C	XP_011519646.1:n.972+2T>C
XM_011521345.3:c.963+2T>C	XP_011519647.1:n.963+2T>C
XM_011521346.2:c.903+2T>C	XP_011519648.2:n.903+2T>C
XM_017022000.2:c.1338+2T>C	XP_016877489.1:n.1338+2T>C
XM_017022001.2:c.963+2T>C	XP_016877490.1:n.963+2T>C
NM_001145112.2:c.1224+2T>C	NP_001138584.1:n.1224+2T>C
NM_001330283.2:c.657+2T>C	NP_001317212.1:n.657+2T>C
NM_001387260.1:c.1131+2T>C	NP_001374189.1:n.1131+2T>C
NM_001387261.1:c.1224+2T>C	NP_001374190.1:n.1224+2T>C
NM_001387262.1:c.1224+2T>C	NP_001374191.1:n.1224+2T>C
NM_001387263.1:c.1224+2T>C MANE Select	NP_001374192.1:n.1224+2T>C
NM_001387264.1:c.1131+2T>C	NP_001374193.1:n.1131+2T>C