Canonical Allele Identifier: CA392241731

Gene: PATL2

Linked Data

• MyVariant Identifiers: chr15:g.44961593C>A (hg19) ; chr15:g.44669395C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44669395C>A , CM000677.2:g.44669395C>A	GRCh38
NC_000015.9:g.44961593C>A , CM000677.1:g.44961593C>A	GRCh37
NC_000015.8:g.42748885C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000682850.1:c.949G>T MANE Select	ENSP00000508024.1:p.Glu317Ter
ENST00000434130.6:c.949G>T	ENSP00000416673.1:p.Glu317Ter
ENST00000434130.5:c.949G>T	ENSP00000416673.1:p.Glu317Ter
ENST00000560775.5:c.949G>T	ENSP00000453915.1:p.Glu317Ter
ENST00000560780.1:c.382G>T	ENSP00000453695.1:p.Glu128Ter
NM_001145112.1:c.949G>T	NP_001138584.1:p.Glu317Ter
XM_005254224.2:c.949G>T	XP_005254281.1:p.Glu317Ter
XM_011521336.1:c.949G>T	XP_011519638.1:p.Glu317Ter
XM_011521337.1:c.940G>T	XP_011519639.1:p.Glu314Ter
XM_011521338.1:c.949G>T	XP_011519640.1:p.Glu317Ter
XM_011521339.1:c.949G>T	XP_011519641.1:p.Glu317Ter
XM_011521340.1:c.949G>T	XP_011519642.1:p.Glu317Ter
XM_011521341.1:c.949G>T	XP_011519643.1:p.Glu317Ter
XM_011521342.1:c.727G>T	XP_011519644.1:p.Glu243Ter
XM_011521343.1:c.697G>T	XP_011519645.1:p.Glu233Ter
XM_011521344.1:c.697G>T	XP_011519646.1:p.Glu233Ter
XM_011521345.1:c.688G>T	XP_011519647.1:p.Glu230Ter
XM_011521346.1:c.514G>T	XP_011519648.1:p.Glu172Ter
XM_011521347.1:c.382G>T	XP_011519649.1:p.Glu128Ter
XM_011521348.1:c.382G>T	XP_011519650.1:p.Glu128Ter
NM_001330283.1:c.382G>T	NP_001317212.1:p.Glu128Ter
XM_011521336.2:c.1063G>T	XP_011519638.2:p.Glu355Ter
XM_011521337.2:c.1054G>T	XP_011519639.2:p.Glu352Ter
XM_011521338.3:c.949G>T	XP_011519640.1:p.Glu317Ter
XM_011521339.3:c.949G>T	XP_011519641.1:p.Glu317Ter
XM_011521340.3:c.949G>T	XP_011519642.1:p.Glu317Ter
XM_011521342.2:c.727G>T	XP_011519644.1:p.Glu243Ter
XM_011521343.3:c.697G>T	XP_011519645.1:p.Glu233Ter
XM_011521344.3:c.697G>T	XP_011519646.1:p.Glu233Ter
XM_011521345.3:c.688G>T	XP_011519647.1:p.Glu230Ter
XM_011521346.2:c.628G>T	XP_011519648.2:p.Glu210Ter
XM_017022000.2:c.1063G>T	XP_016877489.1:p.Glu355Ter
XM_017022001.2:c.688G>T	XP_016877490.1:p.Glu230Ter
NM_001145112.2:c.949G>T	NP_001138584.1:p.Glu317Ter
NM_001330283.2:c.382G>T	NP_001317212.1:p.Glu128Ter
NM_001387260.1:c.856G>T	NP_001374189.1:p.Glu286Ter
NM_001387261.1:c.949G>T	NP_001374190.1:p.Glu317Ter
NM_001387262.1:c.949G>T	NP_001374191.1:p.Glu317Ter
NM_001387263.1:c.949G>T MANE Select	NP_001374192.1:p.Glu317Ter
NM_001387264.1:c.856G>T	NP_001374193.1:p.Glu286Ter