Canonical Allele Identifier: CA7963482

Gene: PALB2

Linked Data

• ClinVar Variation Id: 530124
• ClinVar RCV Id: RCV000635784 ; RCV001016626 ; RCV002492981 ; RCV003156270
• dbSNP Id: rs769009609
• ExAC: 16:23635360 G / C
• gnomAD v2: 16-23635360-G-C
• MyVariant Identifiers: chr16:g.23635360G>C (hg19) ; chr16:g.23624039G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23624039G>C , CM000678.2:g.23624039G>C	GRCh38
NC_000016.9:g.23635360G>C , CM000678.1:g.23635360G>C	GRCh37
NC_000016.8:g.23542861G>C	NCBI36
NG_007406.1:g.22319C>G , LRG_308:g.22319C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2810C>G	ENSP00000460666.3:p.Ala937Gly
ENST00000565038.2:c.*285C>G	ENSP00000459882.2:n.*285C>G
ENST00000566069.6:c.2804C>G	ENSP00000459237.2:p.Ala935Gly
ENST00000697377.2:c.2648C>G	ENSP00000513286.2:p.Ala883Gly
ENST00000697379.2:c.2810C>G	ENSP00000513287.2:p.Ala937Gly
ENST00000561514.2:c.1919C>G	ENSP00000460666.2:p.Ala640Gly
ENST00000697374.1:c.1919C>G	ENSP00000513284.1:p.Ala640Gly
ENST00000697375.1:n.4151C>G
ENST00000697376.1:c.1919C>G	ENSP00000513285.1:p.Ala640Gly
ENST00000697377.1:c.1757C>G	ENSP00000513286.1:p.Ala586Gly
ENST00000697378.1:n.3324C>G
ENST00000697379.1:c.1919C>G	ENSP00000513287.1:p.Ala640Gly
ENST00000697380.1:n.2096C>G
ENST00000697381.1:n.1499C>G
ENST00000697382.1:c.1919C>G	ENSP00000513288.1:p.Ala640Gly
ENST00000697383.1:c.338C>G	ENSP00000513289.1:p.Ala113Gly
ENST00000261584.9:c.2804C>G MANE Select	ENSP00000261584.4:p.Ala935Gly
ENST00000261584.8:c.2804C>G	ENSP00000261584.4:p.Ala935Gly
ENST00000568219.5:c.1919C>G	ENSP00000454703.2:p.Ala640Gly
NM_024675.3:c.2804C>G , LRG_308t1:c.2804C>G	NP_078951.2:p.Ala935Gly
XM_011545946.1:c.2810C>G	XP_011544248.1:p.Ala937Gly
XM_011545947.1:c.2810C>G	XP_011544249.1:p.Ala937Gly
XM_011545948.1:c.1919C>G	XP_011544250.1:p.Ala640Gly
XR_950851.1:n.3600C>G
XM_011545946.2:c.2810C>G	XP_011544248.1:p.Ala937Gly
XM_011545947.2:c.2810C>G	XP_011544249.1:p.Ala937Gly
XM_011545948.2:c.1919C>G	XP_011544250.1:p.Ala640Gly
XM_017023671.1:c.2810C>G	XP_016879160.1:p.Ala937Gly
XM_017023672.2:c.2804C>G	XP_016879161.1:p.Ala935Gly
XM_017023673.2:c.2804C>G	XP_016879162.1:p.Ala935Gly
NM_024675.4:c.2804C>G MANE Select	NP_078951.2:p.Ala935Gly