Canonical Allele Identifier: CA395139488

Gene: PALB2

Linked Data

• ClinVar Variation Id: 460987
• ClinVar RCV Id: RCV000560521
• dbSNP Id: rs1555458188
• MyVariant Identifiers: chr16:g.23619233A>C (hg19) ; chr16:g.23607912A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607912A>C , CM000678.2:g.23607912A>C	GRCh38
NC_000016.9:g.23619233A>C , CM000678.1:g.23619233A>C	GRCh37
NC_000016.8:g.23526734A>C	NCBI36
NG_007406.1:g.38446T>G , LRG_308:g.38446T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3308T>G	ENSP00000460666.3:p.Leu1103Arg
ENST00000565038.2:c.*783T>G	ENSP00000459882.2:n.*783T>G
ENST00000566069.6:c.3202-4243T>G	ENSP00000459237.2:n.3202-4243T>G
ENST00000697377.2:c.3146T>G	ENSP00000513286.2:p.Leu1049Arg
ENST00000697379.2:c.3308T>G	ENSP00000513287.2:p.Leu1103Arg
ENST00000561514.2:c.2417T>G	ENSP00000460666.2:p.Leu806Arg
ENST00000697374.1:c.2417T>G	ENSP00000513284.1:p.Leu806Arg
ENST00000697375.1:n.4649T>G
ENST00000697376.1:c.2317-4243T>G	ENSP00000513285.1:n.2317-4243T>G
ENST00000697377.1:c.2255T>G	ENSP00000513286.1:p.Leu752Arg
ENST00000697378.1:n.3822T>G
ENST00000697379.1:c.2417T>G	ENSP00000513287.1:p.Leu806Arg
ENST00000697380.1:n.2506T>G
ENST00000697381.1:n.1997T>G
ENST00000697382.1:c.*79T>G	ENSP00000513288.1:n.*79T>G
ENST00000697383.1:c.836T>G	ENSP00000513289.1:p.Leu279Arg
ENST00000261584.9:c.3302T>G MANE Select	ENSP00000261584.4:p.Leu1101Arg
ENST00000261584.8:c.3302T>G	ENSP00000261584.4:p.Leu1101Arg
ENST00000566069.5:c.117-4243T>G
ENST00000568219.5:c.2417T>G	ENSP00000454703.2:p.Leu806Arg
NM_024675.3:c.3302T>G , LRG_308t1:c.3302T>G	NP_078951.2:p.Leu1101Arg
XM_011545946.1:c.3308T>G	XP_011544248.1:p.Leu1103Arg
XM_011545947.1:c.3208-4243T>G	XP_011544249.1:n.3208-4243T>G
XM_011545948.1:c.2417T>G	XP_011544250.1:p.Leu806Arg
XR_950851.1:n.4010T>G
XM_011545946.2:c.3308T>G	XP_011544248.1:p.Leu1103Arg
XM_011545947.2:c.3208-4243T>G	XP_011544249.1:n.3208-4243T>G
XM_011545948.2:c.2417T>G	XP_011544250.1:p.Leu806Arg
XM_017023671.1:c.3120-4243T>G	XP_016879160.1:n.3120-4243T>G
XM_017023672.2:c.3114-4243T>G	XP_016879161.1:n.3114-4243T>G
XM_017023673.2:c.3202-4243T>G	XP_016879162.1:n.3202-4243T>G
NM_024675.4:c.3302T>G MANE Select	NP_078951.2:p.Leu1101Arg