Canonical Allele Identifier: CA392241714

Gene: PATL2

Linked Data

• MyVariant Identifiers: chr15:g.44961587C>A (hg19) ; chr15:g.44669389C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44669389C>A , CM000677.2:g.44669389C>A	GRCh38
NC_000015.9:g.44961587C>A , CM000677.1:g.44961587C>A	GRCh37
NC_000015.8:g.42748879C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682850.1:c.955G>T MANE Select	ENSP00000508024.1:p.Glu319Ter
ENST00000434130.6:c.955G>T	ENSP00000416673.1:p.Glu319Ter
ENST00000434130.5:c.955G>T	ENSP00000416673.1:p.Glu319Ter
ENST00000560775.5:c.955G>T	ENSP00000453915.1:p.Glu319Ter
ENST00000560780.1:c.388G>T	ENSP00000453695.1:p.Glu130Ter
NM_001145112.1:c.955G>T	NP_001138584.1:p.Glu319Ter
XM_005254224.2:c.955G>T	XP_005254281.1:p.Glu319Ter
XM_011521336.1:c.955G>T	XP_011519638.1:p.Glu319Ter
XM_011521337.1:c.946G>T	XP_011519639.1:p.Glu316Ter
XM_011521338.1:c.955G>T	XP_011519640.1:p.Glu319Ter
XM_011521339.1:c.955G>T	XP_011519641.1:p.Glu319Ter
XM_011521340.1:c.955G>T	XP_011519642.1:p.Glu319Ter
XM_011521341.1:c.955G>T	XP_011519643.1:p.Glu319Ter
XM_011521342.1:c.733G>T	XP_011519644.1:p.Glu245Ter
XM_011521343.1:c.703G>T	XP_011519645.1:p.Glu235Ter
XM_011521344.1:c.703G>T	XP_011519646.1:p.Glu235Ter
XM_011521345.1:c.694G>T	XP_011519647.1:p.Glu232Ter
XM_011521346.1:c.520G>T	XP_011519648.1:p.Glu174Ter
XM_011521347.1:c.388G>T	XP_011519649.1:p.Glu130Ter
XM_011521348.1:c.388G>T	XP_011519650.1:p.Glu130Ter
NM_001330283.1:c.388G>T	NP_001317212.1:p.Glu130Ter
XM_011521336.2:c.1069G>T	XP_011519638.2:p.Glu357Ter
XM_011521337.2:c.1060G>T	XP_011519639.2:p.Glu354Ter
XM_011521338.3:c.955G>T	XP_011519640.1:p.Glu319Ter
XM_011521339.3:c.955G>T	XP_011519641.1:p.Glu319Ter
XM_011521340.3:c.955G>T	XP_011519642.1:p.Glu319Ter
XM_011521342.2:c.733G>T	XP_011519644.1:p.Glu245Ter
XM_011521343.3:c.703G>T	XP_011519645.1:p.Glu235Ter
XM_011521344.3:c.703G>T	XP_011519646.1:p.Glu235Ter
XM_011521345.3:c.694G>T	XP_011519647.1:p.Glu232Ter
XM_011521346.2:c.634G>T	XP_011519648.2:p.Glu212Ter
XM_017022000.2:c.1069G>T	XP_016877489.1:p.Glu357Ter
XM_017022001.2:c.694G>T	XP_016877490.1:p.Glu232Ter
NM_001145112.2:c.955G>T	NP_001138584.1:p.Glu319Ter
NM_001330283.2:c.388G>T	NP_001317212.1:p.Glu130Ter
NM_001387260.1:c.862G>T	NP_001374189.1:p.Glu288Ter
NM_001387261.1:c.955G>T	NP_001374190.1:p.Glu319Ter
NM_001387262.1:c.955G>T	NP_001374191.1:p.Glu319Ter
NM_001387263.1:c.955G>T MANE Select	NP_001374192.1:p.Glu319Ter
NM_001387264.1:c.862G>T	NP_001374193.1:p.Glu288Ter