Canonical Allele Identifier: CA7388874

Gene: PACS2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.105382877C>T , CM000676.2:g.105382877C>T	GRCh38
NC_000014.8:g.105849214C>T , CM000676.1:g.105849214C>T	GRCh37
NC_000014.7:g.104920259C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001100913.3:c.1589C>T MANE Select	NP_001094383.2:p.Ala530Val
ENST00000447393.6:c.1589C>T MANE Select	ENSP00000393559.2:p.Ala530Val
NM_001100913.2:c.1589C>T	NP_001094383.2:p.Ala530Val
NM_001243127.2:c.1352C>T	NP_001230056.1:p.Ala451Val
NM_001243127.3:c.1352C>T	NP_001230056.1:p.Ala451Val
NM_015197.3:c.1577C>T	NP_056012.2:p.Ala526Val
NM_015197.4:c.1577C>T	NP_056012.2:p.Ala526Val
ENST00000325438.12:c.1577C>T	ENSP00000321834.8:p.Ala526Val
ENST00000430725.6:c.1352C>T	ENSP00000393524.2:p.Ala451Val
ENST00000447393.5:c.1589C>T	ENSP00000393559.2:p.Ala530Val
ENST00000547217.5:c.1487C>T	ENSP00000449525.1:p.Ala496Val
ENST00000547903.1:n.311C>T
ENST00000551692.5:n.980C>T
ENST00000685365.1:c.1577C>T	ENSP00000509432.1:p.Ala526Val
ENST00000686173.1:n.1589C>T
ENST00000686461.1:c.*1514C>T	ENSP00000510561.1:n.*1514C>T
ENST00000693530.1:n.1326C>T
XM_005267462.3:c.1589C>T	XP_005267519.1:p.Ala530Val
XM_005267463.3:c.1577C>T	XP_005267520.1:p.Ala526Val
XM_006720085.2:c.1592C>T	XP_006720148.1:p.Ala531Val
XM_006720086.2:c.1580C>T	XP_006720149.1:p.Ala527Val
XM_006720087.2:c.1568C>T	XP_006720150.1:p.Ala523Val
XM_006720088.2:c.1592C>T	XP_006720151.1:p.Ala531Val
XM_006720089.2:c.1580C>T	XP_006720152.1:p.Ala527Val
XM_006720090.1:c.1592C>T	XP_006720153.1:p.Ala531Val
XM_006720090.2:c.1592C>T	XP_006720153.1:p.Ala531Val
XM_006720091.1:c.1592C>T	XP_006720154.1:p.Ala531Val
XM_006720091.2:c.1592C>T	XP_006720154.1:p.Ala531Val
XM_006720092.2:c.1553C>T	XP_006720155.1:p.Ala518Val
XM_006720092.3:c.1553C>T	XP_006720155.1:p.Ala518Val
XM_011536585.1:c.1391C>T	XP_011534887.1:p.Ala464Val
XM_017021105.2:c.1580C>T	XP_016876594.1:p.Ala527Val
XM_017021106.2:c.1577C>T	XP_016876595.1:p.Ala526Val
XM_017021107.2:c.1568C>T	XP_016876596.1:p.Ala523Val
XM_017021108.2:c.1565C>T	XP_016876597.1:p.Ala522Val
XM_017021109.2:c.1589C>T	XP_016876598.1:p.Ala530Val
XM_017021110.2:c.1580C>T	XP_016876599.1:p.Ala527Val
XM_017021111.2:c.1376C>T	XP_016876600.1:p.Ala459Val
XM_017021112.2:c.1391C>T	XP_016876601.1:p.Ala464Val
XR_001750200.2:n.1651C>T