Canonical Allele Identifier: CA2632323993

Gene: PALB2

Linked Data

• dbSNP Id: rs2142250143
• gnomAD v4: 16-23603417-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603417G>T , CM000678.2:g.23603417G>T	GRCh38
NC_000016.9:g.23614738G>T , CM000678.1:g.23614738G>T	GRCh37
NC_000016.8:g.23522239G>T	NCBI36
NG_007406.1:g.42941C>A , LRG_308:g.42941C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.*42C>A	ENSP00000460666.3:n.*42C>A
ENST00000565038.2:c.*1088C>A	ENSP00000459882.2:n.*1088C>A
ENST00000566069.6:c.*238C>A	ENSP00000459237.2:n.*238C>A
ENST00000697377.2:c.*42C>A	ENSP00000513286.2:n.*42C>A
ENST00000697379.2:c.*42C>A	ENSP00000513287.2:n.*42C>A
ENST00000561514.2:c.*42C>A	ENSP00000460666.2:n.*42C>A
ENST00000697374.1:c.*42C>A	ENSP00000513284.1:n.*42C>A
ENST00000697375.1:n.4950C>A
ENST00000697376.1:c.*238C>A	ENSP00000513285.1:n.*238C>A
ENST00000697377.1:c.*42C>A	ENSP00000513286.1:n.*42C>A
ENST00000697378.1:n.4123C>A
ENST00000697379.1:c.*42C>A	ENSP00000513287.1:n.*42C>A
ENST00000697380.1:n.2807C>A
ENST00000697381.1:n.2298C>A
ENST00000697382.1:c.*380C>A	ENSP00000513288.1:n.*380C>A
ENST00000697383.1:c.*42C>A	ENSP00000513289.1:n.*42C>A
ENST00000261584.9:c.*42C>A MANE Select	ENSP00000261584.4:n.*42C>A
ENST00000261584.8:c.*42C>A	ENSP00000261584.4:n.*42C>A
ENST00000566069.5:c.369C>A
ENST00000568219.5:c.*42C>A	ENSP00000454703.2:n.*42C>A
NM_024675.3:c.*42C>A , LRG_308t1:c.*42C>A	NP_078951.2:n.*42C>A
XM_011545946.1:c.*42C>A	XP_011544248.1:n.*42C>A
XM_011545947.1:c.*238C>A	XP_011544249.1:n.*238C>A
XM_011545948.1:c.*42C>A	XP_011544250.1:n.*42C>A
XR_950851.1:n.4311C>A
XM_011545946.2:c.*42C>A	XP_011544248.1:n.*42C>A
XM_011545947.2:c.*238C>A	XP_011544249.1:n.*238C>A
XM_011545948.2:c.*42C>A	XP_011544250.1:n.*42C>A
XM_017023671.1:c.*42C>A	XP_016879160.1:n.*42C>A
XM_017023672.2:c.*42C>A	XP_016879161.1:n.*42C>A
XM_017023673.2:c.*238C>A	XP_016879162.1:n.*238C>A
NM_024675.4:c.*42C>A MANE Select	NP_078951.2:n.*42C>A