Canonical Allele Identifier: CA395144445
Community Standard Title: NM_024675.4(PALB2):c.2860G>A (p.Glu954Lys)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23623105C>T , CM000678.2:g.23623105C>T GRCh38
NC_000016.9:g.23634426C>T , CM000678.1:g.23634426C>T GRCh37
NC_000016.8:g.23541927C>T NCBI36
NG_007406.1:g.23253G>A , LRG_308:g.23253G>A

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.2860G>A MANE Select NP_078951.2:p.Glu954Lys
ENST00000261584.9:c.2860G>A MANE Select ENSP00000261584.4:p.Glu954Lys
NM_024675.3:c.2860G>A , LRG_308t1:c.2860G>A NP_078951.2:p.Glu954Lys
ENST00000261584.8:c.2860G>A ENSP00000261584.4:p.Glu954Lys
ENST00000561514.2:c.1975G>A ENSP00000460666.2:p.Glu659Lys
ENST00000561514.3:c.2866G>A ENSP00000460666.3:p.Glu956Lys
ENST00000565038.2:c.*341G>A ENSP00000459882.2:n.*341G>A
ENST00000566069.6:c.2860G>A ENSP00000459237.2:p.Glu954Lys
ENST00000568219.5:c.1975G>A ENSP00000454703.2:p.Glu659Lys
ENST00000697374.1:c.1975G>A ENSP00000513284.1:p.Glu659Lys
ENST00000697375.1:n.4207G>A
ENST00000697376.1:c.1975G>A ENSP00000513285.1:p.Glu659Lys
ENST00000697377.1:c.1813G>A ENSP00000513286.1:p.Glu605Lys
ENST00000697377.2:c.2704G>A ENSP00000513286.2:p.Glu902Lys
ENST00000697378.1:n.3380G>A
ENST00000697379.1:c.1975G>A ENSP00000513287.1:p.Glu659Lys
ENST00000697379.2:c.2866G>A ENSP00000513287.2:p.Glu956Lys
ENST00000697380.1:n.2152G>A
ENST00000697381.1:n.1555G>A
ENST00000697382.1:c.1975G>A ENSP00000513288.1:p.Glu659Lys
ENST00000697383.1:c.394G>A ENSP00000513289.1:p.Glu132Lys
XM_011545946.1:c.2866G>A XP_011544248.1:p.Glu956Lys
XM_011545946.2:c.2866G>A XP_011544248.1:p.Glu956Lys
XM_011545947.1:c.2866G>A XP_011544249.1:p.Glu956Lys
XM_011545947.2:c.2866G>A XP_011544249.1:p.Glu956Lys
XM_011545948.1:c.1975G>A XP_011544250.1:p.Glu659Lys
XM_011545948.2:c.1975G>A XP_011544250.1:p.Glu659Lys
XM_017023671.1:c.2866G>A XP_016879160.1:p.Glu956Lys
XM_017023672.2:c.2860G>A XP_016879161.1:p.Glu954Lys
XM_017023673.2:c.2860G>A XP_016879162.1:p.Glu954Lys
XR_950851.1:n.3656G>A