Canonical Allele Identifier: CA10579909

Gene: PALB2

Linked Data

• ClinVar Variation Id: 233562
• ClinVar RCV Id: RCV000216933
• dbSNP Id: rs876660491
• MyVariant Identifiers: chr16:g.23614776T>C (hg19) ; chr16:g.23603455T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603455T>C , CM000678.2:g.23603455T>C	GRCh38
NC_000016.9:g.23614776T>C , CM000678.1:g.23614776T>C	GRCh37
NC_000016.8:g.23522277T>C	NCBI36
NG_007406.1:g.42903A>G , LRG_308:g.42903A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.*4A>G	ENSP00000460666.3:n.*4A>G
ENST00000565038.2:c.*1050A>G	ENSP00000459882.2:n.*1050A>G
ENST00000566069.6:c.*200A>G	ENSP00000459237.2:n.*200A>G
ENST00000697377.2:c.*4A>G	ENSP00000513286.2:n.*4A>G
ENST00000697379.2:c.*4A>G	ENSP00000513287.2:n.*4A>G
ENST00000561514.2:c.*4A>G	ENSP00000460666.2:n.*4A>G
ENST00000697374.1:c.*4A>G	ENSP00000513284.1:n.*4A>G
ENST00000697375.1:n.4912A>G
ENST00000697376.1:c.*200A>G	ENSP00000513285.1:n.*200A>G
ENST00000697377.1:c.*4A>G	ENSP00000513286.1:n.*4A>G
ENST00000697378.1:n.4085A>G
ENST00000697379.1:c.*4A>G	ENSP00000513287.1:n.*4A>G
ENST00000697380.1:n.2769A>G
ENST00000697381.1:n.2260A>G
ENST00000697382.1:c.*342A>G	ENSP00000513288.1:n.*342A>G
ENST00000697383.1:c.*4A>G	ENSP00000513289.1:n.*4A>G
ENST00000261584.9:c.*4A>G MANE Select	ENSP00000261584.4:n.*4A>G
ENST00000261584.8:c.*4A>G	ENSP00000261584.4:n.*4A>G
ENST00000566069.5:c.331A>G
ENST00000568219.5:c.*4A>G	ENSP00000454703.2:n.*4A>G
NM_024675.3:c.*4A>G , LRG_308t1:c.*4A>G	NP_078951.2:n.*4A>G
XM_011545946.1:c.*4A>G	XP_011544248.1:n.*4A>G
XM_011545947.1:c.*200A>G	XP_011544249.1:n.*200A>G
XM_011545948.1:c.*4A>G	XP_011544250.1:n.*4A>G
XR_950851.1:n.4273A>G
XM_011545946.2:c.*4A>G	XP_011544248.1:n.*4A>G
XM_011545947.2:c.*200A>G	XP_011544249.1:n.*200A>G
XM_011545948.2:c.*4A>G	XP_011544250.1:n.*4A>G
XM_017023671.1:c.*4A>G	XP_016879160.1:n.*4A>G
XM_017023672.2:c.*4A>G	XP_016879161.1:n.*4A>G
XM_017023673.2:c.*200A>G	XP_016879162.1:n.*200A>G
NM_024675.4:c.*4A>G MANE Select	NP_078951.2:n.*4A>G