Canonical Allele Identifier: CA391174500
Gene: PACS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 495141
dbSNP Id: rs1555408401

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.105368112G>A , CM000676.2:g.105368112G>A GRCh38
NC_000014.8:g.105834449G>A , CM000676.1:g.105834449G>A GRCh37
NC_000014.7:g.104905494G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000685365.1:c.625G>A ENSP00000509432.1:p.Glu209Lys
ENST00000686173.1:n.661G>A
ENST00000686461.1:c.*562G>A ENSP00000510561.1:n.*562G>A
ENST00000693530.1:n.374G>A
ENST00000447393.6:c.625G>A MANE Select ENSP00000393559.2:p.Glu209Lys
ENST00000325438.12:c.625G>A ENSP00000321834.8:p.Glu209Lys
ENST00000430725.6:c.424G>A ENSP00000393524.2:p.Glu142Lys
ENST00000447393.5:c.625G>A ENSP00000393559.2:p.Glu209Lys
ENST00000547217.5:c.535G>A ENSP00000449525.1:p.Glu179Lys
ENST00000551692.5:n.28G>A
ENST00000552138.5:n.331G>A
NM_001100913.2:c.625G>A NP_001094383.2:p.Glu209Lys
NM_001243127.2:c.424G>A NP_001230056.1:p.Glu142Lys
NM_015197.3:c.625G>A NP_056012.2:p.Glu209Lys
XM_005267462.3:c.625G>A XP_005267519.1:p.Glu209Lys
XM_005267463.3:c.625G>A XP_005267520.1:p.Glu209Lys
XM_006720085.2:c.625G>A XP_006720148.1:p.Glu209Lys
XM_006720086.2:c.625G>A XP_006720149.1:p.Glu209Lys
XM_006720087.2:c.625G>A XP_006720150.1:p.Glu209Lys
XM_006720088.2:c.625G>A XP_006720151.1:p.Glu209Lys
XM_006720089.2:c.625G>A XP_006720152.1:p.Glu209Lys
XM_006720090.1:c.625G>A XP_006720153.1:p.Glu209Lys
XM_006720091.1:c.625G>A XP_006720154.1:p.Glu209Lys
XM_006720092.2:c.625G>A XP_006720155.1:p.Glu209Lys
XM_011536585.1:c.424G>A XP_011534887.1:p.Glu142Lys
XM_006720090.2:c.625G>A XP_006720153.1:p.Glu209Lys
XM_006720091.2:c.625G>A XP_006720154.1:p.Glu209Lys
XM_006720092.3:c.625G>A XP_006720155.1:p.Glu209Lys
XM_017021105.2:c.625G>A XP_016876594.1:p.Glu209Lys
XM_017021106.2:c.625G>A XP_016876595.1:p.Glu209Lys
XM_017021107.2:c.625G>A XP_016876596.1:p.Glu209Lys
XM_017021108.2:c.625G>A XP_016876597.1:p.Glu209Lys
XM_017021109.2:c.625G>A XP_016876598.1:p.Glu209Lys
XM_017021110.2:c.625G>A XP_016876599.1:p.Glu209Lys
XM_017021111.2:c.424G>A XP_016876600.1:p.Glu142Lys
XM_017021112.2:c.424G>A XP_016876601.1:p.Glu142Lys
XR_001750200.2:n.684G>A
NM_001100913.3:c.625G>A MANE Select NP_001094383.2:p.Glu209Lys
NM_001243127.3:c.424G>A NP_001230056.1:p.Glu142Lys
NM_015197.4:c.625G>A NP_056012.2:p.Glu209Lys