Canonical Allele Identifier: CA488204759

Gene: PACS2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.105382569C>T , CM000676.2:g.105382569C>T	GRCh38
NC_000014.8:g.105848906C>T , CM000676.1:g.105848906C>T	GRCh37
NC_000014.7:g.104919951C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001100913.3:c.1506C>T MANE Select	NP_001094383.2:p.Asp502=
ENST00000447393.6:c.1506C>T MANE Select	ENSP00000393559.2:p.Asp502=
NM_001100913.2:c.1506C>T	NP_001094383.2:p.Asp502=
NM_001243127.2:c.1269C>T	NP_001230056.1:p.Asp423=
NM_001243127.3:c.1269C>T	NP_001230056.1:p.Asp423=
NM_015197.3:c.1494C>T	NP_056012.2:p.Asp498=
NM_015197.4:c.1494C>T	NP_056012.2:p.Asp498=
ENST00000325438.12:c.1494C>T	ENSP00000321834.8:p.Asp498=
ENST00000430725.6:c.1269C>T	ENSP00000393524.2:p.Asp423=
ENST00000447393.5:c.1506C>T	ENSP00000393559.2:p.Asp502=
ENST00000547217.5:c.1404C>T	ENSP00000449525.1:p.Asp468=
ENST00000547903.1:n.228C>T
ENST00000551692.5:n.897C>T
ENST00000685365.1:c.1494C>T	ENSP00000509432.1:p.Asp498=
ENST00000686173.1:n.1506C>T
ENST00000686461.1:c.*1431C>T	ENSP00000510561.1:n.*1431C>T
ENST00000693530.1:n.1243C>T
XM_005267462.3:c.1506C>T	XP_005267519.1:p.Asp502=
XM_005267463.3:c.1494C>T	XP_005267520.1:p.Asp498=
XM_006720085.2:c.1509C>T	XP_006720148.1:p.Asp503=
XM_006720086.2:c.1497C>T	XP_006720149.1:p.Asp499=
XM_006720087.2:c.1485C>T	XP_006720150.1:p.Asp495=
XM_006720088.2:c.1509C>T	XP_006720151.1:p.Asp503=
XM_006720089.2:c.1497C>T	XP_006720152.1:p.Asp499=
XM_006720090.1:c.1509C>T	XP_006720153.1:p.Asp503=
XM_006720090.2:c.1509C>T	XP_006720153.1:p.Asp503=
XM_006720091.1:c.1509C>T	XP_006720154.1:p.Asp503=
XM_006720091.2:c.1509C>T	XP_006720154.1:p.Asp503=
XM_006720092.2:c.1470C>T	XP_006720155.1:p.Asp490=
XM_006720092.3:c.1470C>T	XP_006720155.1:p.Asp490=
XM_011536585.1:c.1308C>T	XP_011534887.1:p.Asp436=
XM_017021105.2:c.1497C>T	XP_016876594.1:p.Asp499=
XM_017021106.2:c.1494C>T	XP_016876595.1:p.Asp498=
XM_017021107.2:c.1485C>T	XP_016876596.1:p.Asp495=
XM_017021108.2:c.1482C>T	XP_016876597.1:p.Asp494=
XM_017021109.2:c.1506C>T	XP_016876598.1:p.Asp502=
XM_017021110.2:c.1497C>T	XP_016876599.1:p.Asp499=
XM_017021111.2:c.1293C>T	XP_016876600.1:p.Asp431=
XM_017021112.2:c.1308C>T	XP_016876601.1:p.Asp436=
XR_001750200.2:n.1568C>T