Canonical Allele Identifier: CA166841

Gene: PALB2

Linked Data

• ClinVar Variation Id: 141936
• ClinVar RCV Id: RCV000130657 ; RCV000211075 ; RCV000588260 ; RCV002281957
• dbSNP Id: rs45566737
• ExAC: 16:23614892 A / C
• gnomAD v2: 16-23614892-A-C
• gnomAD v3: 16-23603571-A-C
• gnomAD v4: 16-23603571-A-C
• MyVariant Identifiers: chr16:g.23614892A>C (hg19) ; chr16:g.23603571A>C (hg38)
• PubMed: PMID:17200668 ; PMID:26283626 ; PMID:27443514

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603571A>C , CM000678.2:g.23603571A>C	GRCh38
NC_000016.9:g.23614892A>C , CM000678.1:g.23614892A>C	GRCh37
NC_000016.8:g.23522393A>C	NCBI36
NG_007406.1:g.42787T>G , LRG_308:g.42787T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3455T>G	ENSP00000460666.3:p.Leu1152Arg
ENST00000565038.2:c.*934T>G	ENSP00000459882.2:n.*934T>G
ENST00000566069.6:c.*84T>G	ENSP00000459237.2:n.*84T>G
ENST00000697377.2:c.3293T>G	ENSP00000513286.2:p.Leu1098Arg
ENST00000697379.2:c.3455T>G	ENSP00000513287.2:p.Leu1152Arg
ENST00000561514.2:c.2564T>G	ENSP00000460666.2:p.Leu855Arg
ENST00000697374.1:c.2564T>G	ENSP00000513284.1:p.Leu855Arg
ENST00000697375.1:n.4796T>G
ENST00000697376.1:c.*84T>G	ENSP00000513285.1:n.*84T>G
ENST00000697377.1:c.2402T>G	ENSP00000513286.1:p.Leu801Arg
ENST00000697378.1:n.3969T>G
ENST00000697379.1:c.2564T>G	ENSP00000513287.1:p.Leu855Arg
ENST00000697380.1:n.2653T>G
ENST00000697381.1:n.2144T>G
ENST00000697382.1:c.*226T>G	ENSP00000513288.1:n.*226T>G
ENST00000697383.1:c.983T>G	ENSP00000513289.1:p.Leu328Arg
ENST00000261584.9:c.3449T>G MANE Select	ENSP00000261584.4:p.Leu1150Arg
ENST00000261584.8:c.3449T>G	ENSP00000261584.4:p.Leu1150Arg
ENST00000566069.5:c.215T>G
ENST00000568219.5:c.2564T>G	ENSP00000454703.2:p.Leu855Arg
NM_024675.3:c.3449T>G , LRG_308t1:c.3449T>G	NP_078951.2:p.Leu1150Arg
XM_011545946.1:c.3455T>G	XP_011544248.1:p.Leu1152Arg
XM_011545947.1:c.*84T>G	XP_011544249.1:n.*84T>G
XM_011545948.1:c.2564T>G	XP_011544250.1:p.Leu855Arg
XR_950851.1:n.4157T>G
XM_011545946.2:c.3455T>G	XP_011544248.1:p.Leu1152Arg
XM_011545947.2:c.*84T>G	XP_011544249.1:n.*84T>G
XM_011545948.2:c.2564T>G	XP_011544250.1:p.Leu855Arg
XM_017023671.1:c.3218T>G	XP_016879160.1:p.Leu1073Arg
XM_017023672.2:c.3212T>G	XP_016879161.1:p.Leu1071Arg
XM_017023673.2:c.*84T>G	XP_016879162.1:n.*84T>G
NM_024675.4:c.3449T>G MANE Select	NP_078951.2:p.Leu1150Arg