Canonical Allele Identifier: CA494461841

Gene: PALB2

Linked Data

• ClinVar Variation Id: 461009
• ClinVar RCV Id: RCV000529109 ; RCV000567061 ; RCV003479153 ; RCV001697021
• dbSNP Id: rs1555461747
• gnomAD v4: 16-23636021-T-C
• MyVariant Identifiers: chr16:g.23647342T>C (hg19) ; chr16:g.23636021T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636021T>C , CM000678.2:g.23636021T>C	GRCh38
NC_000016.9:g.23647342T>C , CM000678.1:g.23647342T>C	GRCh37
NC_000016.8:g.23554843T>C	NCBI36
NG_007406.1:g.10337A>G , LRG_308:g.10337A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.531A>G	ENSP00000460666.3:p.Arg177=
ENST00000565038.2:c.211+1829A>G	ENSP00000459882.2:n.211+1829A>G
ENST00000566069.6:c.525A>G	ENSP00000459237.2:p.Arg175=
ENST00000697377.2:c.531A>G	ENSP00000513286.2:p.Arg177=
ENST00000697379.2:c.531A>G	ENSP00000513287.2:p.Arg177=
ENST00000561514.2:c.-361A>G	ENSP00000460666.2:n.-361A>G
ENST00000697374.1:c.-361A>G	ENSP00000513284.1:n.-361A>G
ENST00000697375.1:n.1872A>G
ENST00000697376.1:c.-361A>G	ENSP00000513285.1:n.-361A>G
ENST00000697377.1:c.-361A>G	ENSP00000513286.1:n.-361A>G
ENST00000697378.1:n.1045A>G
ENST00000697379.1:c.-361A>G	ENSP00000513287.1:n.-361A>G
ENST00000697382.1:c.-361A>G	ENSP00000513288.1:n.-361A>G
ENST00000697383.1:c.48+5089A>G	ENSP00000513289.1:n.48+5089A>G
ENST00000697384.1:n.679A>G
ENST00000261584.9:c.525A>G MANE Select	ENSP00000261584.4:p.Arg175=
ENST00000261584.8:c.525A>G	ENSP00000261584.4:p.Arg175=
ENST00000565038.1:c.86+1829A>G
ENST00000568219.5:c.-361A>G	ENSP00000454703.2:n.-361A>G
NM_024675.3:c.525A>G , LRG_308t1:c.525A>G	NP_078951.2:p.Arg175=
XM_011545946.1:c.531A>G	XP_011544248.1:p.Arg177=
XM_011545947.1:c.531A>G	XP_011544249.1:p.Arg177=
XM_011545948.1:c.-361A>G	XP_011544250.1:n.-361A>G
XR_950851.1:n.1321A>G
XM_011545946.2:c.531A>G	XP_011544248.1:p.Arg177=
XM_011545947.2:c.531A>G	XP_011544249.1:p.Arg177=
XM_011545948.2:c.-361A>G	XP_011544250.1:n.-361A>G
XM_017023671.1:c.531A>G	XP_016879160.1:p.Arg177=
XM_017023672.2:c.525A>G	XP_016879161.1:p.Arg175=
XM_017023673.2:c.525A>G	XP_016879162.1:p.Arg175=
NM_024675.4:c.525A>G MANE Select	NP_078951.2:p.Arg175=