Canonical Allele Identifier: CA395143864

Gene: PALB2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23622976C>A , CM000678.2:g.23622976C>A	GRCh38
NC_000016.9:g.23634297C>A , CM000678.1:g.23634297C>A	GRCh37
NC_000016.8:g.23541798C>A	NCBI36
NG_007406.1:g.23382G>T , LRG_308:g.23382G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2995G>T	ENSP00000460666.3:p.Asp999Tyr
ENST00000565038.2:c.*470G>T	ENSP00000459882.2:n.*470G>T
ENST00000566069.6:c.2989G>T	ENSP00000459237.2:p.Asp997Tyr
ENST00000697377.2:c.2833G>T	ENSP00000513286.2:p.Asp945Tyr
ENST00000697379.2:c.2995G>T	ENSP00000513287.2:p.Asp999Tyr
ENST00000561514.2:c.2104G>T	ENSP00000460666.2:p.Asp702Tyr
ENST00000697374.1:c.2104G>T	ENSP00000513284.1:p.Asp702Tyr
ENST00000697375.1:n.4336G>T
ENST00000697376.1:c.2104G>T	ENSP00000513285.1:p.Asp702Tyr
ENST00000697377.1:c.1942G>T	ENSP00000513286.1:p.Asp648Tyr
ENST00000697378.1:n.3509G>T
ENST00000697379.1:c.2104G>T	ENSP00000513287.1:p.Asp702Tyr
ENST00000697380.1:n.2281G>T
ENST00000697381.1:n.1684G>T
ENST00000697382.1:c.2104G>T	ENSP00000513288.1:p.Asp702Tyr
ENST00000697383.1:c.523G>T	ENSP00000513289.1:p.Asp175Tyr
ENST00000261584.9:c.2989G>T MANE Select	ENSP00000261584.4:p.Asp997Tyr
ENST00000261584.8:c.2989G>T	ENSP00000261584.4:p.Asp997Tyr
ENST00000568219.5:c.2104G>T	ENSP00000454703.2:p.Asp702Tyr
NM_024675.3:c.2989G>T , LRG_308t1:c.2989G>T	NP_078951.2:p.Asp997Tyr
XM_011545946.1:c.2995G>T	XP_011544248.1:p.Asp999Tyr
XM_011545947.1:c.2995G>T	XP_011544249.1:p.Asp999Tyr
XM_011545948.1:c.2104G>T	XP_011544250.1:p.Asp702Tyr
XR_950851.1:n.3785G>T
XM_011545946.2:c.2995G>T	XP_011544248.1:p.Asp999Tyr
XM_011545947.2:c.2995G>T	XP_011544249.1:p.Asp999Tyr
XM_011545948.2:c.2104G>T	XP_011544250.1:p.Asp702Tyr
XM_017023671.1:c.2995G>T	XP_016879160.1:p.Asp999Tyr
XM_017023672.2:c.2989G>T	XP_016879161.1:p.Asp997Tyr
XM_017023673.2:c.2989G>T	XP_016879162.1:p.Asp997Tyr
NM_024675.4:c.2989G>T MANE Select	NP_078951.2:p.Asp997Tyr