Canonical Allele Identifier: CA395144538
Gene: PALB2 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23623128G>T , CM000678.2:g.23623128G>T GRCh38
NC_000016.9:g.23634449G>T , CM000678.1:g.23634449G>T GRCh37
NC_000016.8:g.23541950G>T NCBI36
NG_007406.1:g.23230C>A , LRG_308:g.23230C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2843C>A ENSP00000460666.3:p.Ala948Glu
ENST00000565038.2:c.*318C>A ENSP00000459882.2:n.*318C>A
ENST00000566069.6:c.2837C>A ENSP00000459237.2:p.Ala946Glu
ENST00000697377.2:c.2681C>A ENSP00000513286.2:p.Ala894Glu
ENST00000697379.2:c.2843C>A ENSP00000513287.2:p.Ala948Glu
ENST00000561514.2:c.1952C>A ENSP00000460666.2:p.Ala651Glu
ENST00000697374.1:c.1952C>A ENSP00000513284.1:p.Ala651Glu
ENST00000697375.1:n.4184C>A
ENST00000697376.1:c.1952C>A ENSP00000513285.1:p.Ala651Glu
ENST00000697377.1:c.1790C>A ENSP00000513286.1:p.Ala597Glu
ENST00000697378.1:n.3357C>A
ENST00000697379.1:c.1952C>A ENSP00000513287.1:p.Ala651Glu
ENST00000697380.1:n.2129C>A
ENST00000697381.1:n.1532C>A
ENST00000697382.1:c.1952C>A ENSP00000513288.1:p.Ala651Glu
ENST00000697383.1:c.371C>A ENSP00000513289.1:p.Ala124Glu
ENST00000261584.9:c.2837C>A MANE Select ENSP00000261584.4:p.Ala946Glu
ENST00000261584.8:c.2837C>A ENSP00000261584.4:p.Ala946Glu
ENST00000568219.5:c.1952C>A ENSP00000454703.2:p.Ala651Glu
NM_024675.3:c.2837C>A , LRG_308t1:c.2837C>A NP_078951.2:p.Ala946Glu
XM_011545946.1:c.2843C>A XP_011544248.1:p.Ala948Glu
XM_011545947.1:c.2843C>A XP_011544249.1:p.Ala948Glu
XM_011545948.1:c.1952C>A XP_011544250.1:p.Ala651Glu
XR_950851.1:n.3633C>A
XM_011545946.2:c.2843C>A XP_011544248.1:p.Ala948Glu
XM_011545947.2:c.2843C>A XP_011544249.1:p.Ala948Glu
XM_011545948.2:c.1952C>A XP_011544250.1:p.Ala651Glu
XM_017023671.1:c.2843C>A XP_016879160.1:p.Ala948Glu
XM_017023672.2:c.2837C>A XP_016879161.1:p.Ala946Glu
XM_017023673.2:c.2837C>A XP_016879162.1:p.Ala946Glu
NM_024675.4:c.2837C>A MANE Select NP_078951.2:p.Ala946Glu