Canonical Allele Identifier: CA186817

Gene: PALB2

Linked Data

• ClinVar Variation Id: 183868
• ClinVar RCV Id: RCV000162726 ; RCV000470645 ; RCV004544483
• dbSNP Id: rs763513849
• gnomAD v2: 16-23614816-T-C
• gnomAD v3: 16-23603495-T-C
• gnomAD v4: 16-23603495-T-C
• MyVariant Identifiers: chr16:g.23614816T>C (hg19) ; chr16:g.23603495T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603495T>C , CM000678.2:g.23603495T>C	GRCh38
NC_000016.9:g.23614816T>C , CM000678.1:g.23614816T>C	GRCh37
NC_000016.8:g.23522317T>C	NCBI36
NG_007406.1:g.42863A>G , LRG_308:g.42863A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3531A>G	ENSP00000460666.3:p.Gln1177=
ENST00000565038.2:c.*1010A>G	ENSP00000459882.2:n.*1010A>G
ENST00000566069.6:c.*160A>G	ENSP00000459237.2:n.*160A>G
ENST00000697377.2:c.3369A>G	ENSP00000513286.2:p.Gln1123=
ENST00000697379.2:c.3531A>G	ENSP00000513287.2:p.Gln1177=
ENST00000561514.2:c.2640A>G	ENSP00000460666.2:p.Gln880=
ENST00000697374.1:c.2640A>G	ENSP00000513284.1:p.Gln880=
ENST00000697375.1:n.4872A>G
ENST00000697376.1:c.*160A>G	ENSP00000513285.1:n.*160A>G
ENST00000697377.1:c.2478A>G	ENSP00000513286.1:p.Gln826=
ENST00000697378.1:n.4045A>G
ENST00000697379.1:c.2640A>G	ENSP00000513287.1:p.Gln880=
ENST00000697380.1:n.2729A>G
ENST00000697381.1:n.2220A>G
ENST00000697382.1:c.*302A>G	ENSP00000513288.1:n.*302A>G
ENST00000697383.1:c.1059A>G	ENSP00000513289.1:p.Gln353=
ENST00000261584.9:c.3525A>G MANE Select	ENSP00000261584.4:p.Gln1175=
ENST00000261584.8:c.3525A>G	ENSP00000261584.4:p.Gln1175=
ENST00000566069.5:c.291A>G
ENST00000568219.5:c.2640A>G	ENSP00000454703.2:p.Gln880=
NM_024675.3:c.3525A>G , LRG_308t1:c.3525A>G	NP_078951.2:p.Gln1175=
XM_011545946.1:c.3531A>G	XP_011544248.1:p.Gln1177=
XM_011545947.1:c.*160A>G	XP_011544249.1:n.*160A>G
XM_011545948.1:c.2640A>G	XP_011544250.1:p.Gln880=
XR_950851.1:n.4233A>G
XM_011545946.2:c.3531A>G	XP_011544248.1:p.Gln1177=
XM_011545947.2:c.*160A>G	XP_011544249.1:n.*160A>G
XM_011545948.2:c.2640A>G	XP_011544250.1:p.Gln880=
XM_017023671.1:c.3294A>G	XP_016879160.1:p.Gln1098=
XM_017023672.2:c.3288A>G	XP_016879161.1:p.Gln1096=
XM_017023673.2:c.*160A>G	XP_016879162.1:n.*160A>G
NM_024675.4:c.3525A>G MANE Select	NP_078951.2:p.Gln1175=