Canonical Allele Identifier: CA494161299

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23626368C>A , CM000678.2:g.23626368C>A	GRCh38
NC_000016.9:g.23637689C>A , CM000678.1:g.23637689C>A	GRCh37
NC_000016.8:g.23545190C>A	NCBI36
NG_007406.1:g.19990G>T , LRG_308:g.19990G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024675.4:c.2616G>T MANE Select	NP_078951.2:p.Val872=
ENST00000261584.9:c.2616G>T MANE Select	ENSP00000261584.4:p.Val872=
NM_024675.3:c.2616G>T , LRG_308t1:c.2616G>T	NP_078951.2:p.Val872=
ENST00000261584.8:c.2616G>T	ENSP00000261584.4:p.Val872=
ENST00000561514.2:c.1731G>T	ENSP00000460666.2:p.Val577=
ENST00000561514.3:c.2622G>T	ENSP00000460666.3:p.Val874=
ENST00000565038.1:c.188G>T
ENST00000565038.2:c.*97G>T	ENSP00000459882.2:n.*97G>T
ENST00000566069.6:c.2616G>T	ENSP00000459237.2:p.Val872=
ENST00000568219.5:c.1731G>T	ENSP00000454703.2:p.Val577=
ENST00000697374.1:c.1731G>T	ENSP00000513284.1:p.Val577=
ENST00000697375.1:n.3963G>T
ENST00000697376.1:c.1731G>T	ENSP00000513285.1:p.Val577=
ENST00000697377.1:c.1702-2274G>T	ENSP00000513286.1:n.1702-2274G>T
ENST00000697377.2:c.2593-2274G>T	ENSP00000513286.2:n.2593-2274G>T
ENST00000697378.1:n.3136G>T
ENST00000697379.1:c.1731G>T	ENSP00000513287.1:p.Val577=
ENST00000697379.2:c.2622G>T	ENSP00000513287.2:p.Val874=
ENST00000697380.1:n.1908G>T
ENST00000697381.1:n.1311G>T
ENST00000697382.1:c.1731G>T	ENSP00000513288.1:p.Val577=
ENST00000697383.1:c.150G>T	ENSP00000513289.1:p.Val50=
XM_011545946.1:c.2622G>T	XP_011544248.1:p.Val874=
XM_011545946.2:c.2622G>T	XP_011544248.1:p.Val874=
XM_011545947.1:c.2622G>T	XP_011544249.1:p.Val874=
XM_011545947.2:c.2622G>T	XP_011544249.1:p.Val874=
XM_011545948.1:c.1731G>T	XP_011544250.1:p.Val577=
XM_011545948.2:c.1731G>T	XP_011544250.1:p.Val577=
XM_017023671.1:c.2622G>T	XP_016879160.1:p.Val874=
XM_017023672.2:c.2616G>T	XP_016879161.1:p.Val872=
XM_017023673.2:c.2616G>T	XP_016879162.1:p.Val872=
XR_950851.1:n.3412G>T