Canonical Allele Identifier: CA2213412630
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23623059A= , CM000678.2:g.23623059A= GRCh38
NC_000016.9:g.23634380A= , CM000678.1:g.23634380A= GRCh37
NC_000016.8:g.23541881A= NCBI36
NG_007406.1:g.23299T= , LRG_308:g.23299T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2912T= ENSP00000460666.3:p.Val971=
ENST00000565038.2:c.*387T= ENSP00000459882.2:n.*387T=
ENST00000566069.6:c.2906T= ENSP00000459237.2:p.Val969=
ENST00000697377.2:c.2750T= ENSP00000513286.2:p.Val917=
ENST00000697379.2:c.2912T= ENSP00000513287.2:p.Val971=
ENST00000561514.2:c.2021T= ENSP00000460666.2:p.Val674=
ENST00000697374.1:c.2021T= ENSP00000513284.1:p.Val674=
ENST00000697375.1:n.4253T=
ENST00000697376.1:c.2021T= ENSP00000513285.1:p.Val674=
ENST00000697377.1:c.1859T= ENSP00000513286.1:p.Val620=
ENST00000697378.1:n.3426T=
ENST00000697379.1:c.2021T= ENSP00000513287.1:p.Val674=
ENST00000697380.1:n.2198T=
ENST00000697381.1:n.1601T=
ENST00000697382.1:c.2021T= ENSP00000513288.1:p.Val674=
ENST00000697383.1:c.440T= ENSP00000513289.1:p.Val147=
ENST00000261584.9:c.2906T= MANE Select ENSP00000261584.4:p.Val969=
ENST00000261584.8:c.2906T= ENSP00000261584.4:p.Val969=
ENST00000568219.5:c.2021T= ENSP00000454703.2:p.Val674=
NM_024675.3:c.2906T= , LRG_308t1:c.2906T= NP_078951.2:p.Val969=
XM_011545946.1:c.2912T= XP_011544248.1:p.Val971=
XM_011545947.1:c.2912T= XP_011544249.1:p.Val971=
XM_011545948.1:c.2021T= XP_011544250.1:p.Val674=
XR_950851.1:n.3702T=
XM_011545946.2:c.2912T= XP_011544248.1:p.Val971=
XM_011545947.2:c.2912T= XP_011544249.1:p.Val971=
XM_011545948.2:c.2021T= XP_011544250.1:p.Val674=
XM_017023671.1:c.2912T= XP_016879160.1:p.Val971=
XM_017023672.2:c.2906T= XP_016879161.1:p.Val969=
XM_017023673.2:c.2906T= XP_016879162.1:p.Val969=
NM_024675.4:c.2906T= MANE Select NP_078951.2:p.Val969=