Canonical Allele Identifier: CA7389378
Community Standard Title: NM_001100913.3(PACS2):c.2704G>C (p.Ala902Pro)
Gene: PACS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.105394661G>C , CM000676.2:g.105394661G>C GRCh38
NC_000014.8:g.105860998G>C , CM000676.1:g.105860998G>C GRCh37
NC_000014.7:g.104932043G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001100913.3:c.2704G>C MANE Select NP_001094383.2:p.Ala902Pro
ENST00000447393.6:c.2704G>C MANE Select ENSP00000393559.2:p.Ala902Pro
NM_001100913.2:c.2704G>C NP_001094383.2:p.Ala902Pro
NM_001243127.2:c.2434G>C NP_001230056.1:p.Ala812Pro
NM_001243127.3:c.2434G>C NP_001230056.1:p.Ala812Pro
NM_015197.3:c.2659G>C NP_056012.2:p.Ala887Pro
NM_015197.4:c.2659G>C NP_056012.2:p.Ala887Pro
ENST00000325438.12:c.2659G>C ENSP00000321834.8:p.Ala887Pro
ENST00000430725.6:c.2434G>C ENSP00000393524.2:p.Ala812Pro
ENST00000447393.5:c.2704G>C ENSP00000393559.2:p.Ala902Pro
ENST00000547217.5:c.2569G>C ENSP00000449525.1:p.Ala857Pro
ENST00000551692.5:n.2901G>C
ENST00000551743.5:n.1286G>C
ENST00000551801.1:n.615G>C
ENST00000685365.1:c.*621G>C ENSP00000509432.1:n.*621G>C
ENST00000686173.1:n.3523G>C
ENST00000686461.1:c.*2596G>C ENSP00000510561.1:n.*2596G>C
ENST00000687967.1:n.1179G>C
ENST00000693530.1:n.2408G>C
XM_006720090.1:c.2707G>C XP_006720153.1:p.Ala903Pro
XM_006720090.2:c.2707G>C XP_006720153.1:p.Ala903Pro
XM_006720091.1:c.2674G>C XP_006720154.1:p.Ala892Pro
XM_006720091.2:c.2674G>C XP_006720154.1:p.Ala892Pro
XM_006720092.2:c.2635G>C XP_006720155.1:p.Ala879Pro
XM_006720092.3:c.2635G>C XP_006720155.1:p.Ala879Pro
XM_017021105.2:c.2695G>C XP_016876594.1:p.Ala899Pro
XM_017021106.2:c.2692G>C XP_016876595.1:p.Ala898Pro
XM_017021107.2:c.2683G>C XP_016876596.1:p.Ala895Pro
XM_017021108.2:c.2680G>C XP_016876597.1:p.Ala894Pro
XM_017021109.2:c.2671G>C XP_016876598.1:p.Ala891Pro
XM_017021110.2:c.2662G>C XP_016876599.1:p.Ala888Pro
XM_017021111.2:c.2458G>C XP_016876600.1:p.Ala820Pro
XM_017021112.2:c.2506G>C XP_016876601.1:p.Ala836Pro
XR_001750200.2:n.2897G>C