Canonical Allele Identifier: CA395121890

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1719711
• ClinVar RCV Id: RCV002303931 ; RCV002427767
• MyVariant Identifiers: chr16:g.23637591T>C (hg19) ; chr16:g.23626270T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23626270T>C , CM000678.2:g.23626270T>C	GRCh38
NC_000016.9:g.23637591T>C , CM000678.1:g.23637591T>C	GRCh37
NC_000016.8:g.23545092T>C	NCBI36
NG_007406.1:g.20088A>G , LRG_308:g.20088A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2720A>G	ENSP00000460666.3:p.Gln907Arg
ENST00000565038.2:c.*195A>G	ENSP00000459882.2:n.*195A>G
ENST00000566069.6:c.2714A>G	ENSP00000459237.2:p.Gln905Arg
ENST00000697377.2:c.2593-2176A>G	ENSP00000513286.2:n.2593-2176A>G
ENST00000697379.2:c.2720A>G	ENSP00000513287.2:p.Gln907Arg
ENST00000561514.2:c.1829A>G	ENSP00000460666.2:p.Gln610Arg
ENST00000697374.1:c.1829A>G	ENSP00000513284.1:p.Gln610Arg
ENST00000697375.1:n.4061A>G
ENST00000697376.1:c.1829A>G	ENSP00000513285.1:p.Gln610Arg
ENST00000697377.1:c.1702-2176A>G	ENSP00000513286.1:n.1702-2176A>G
ENST00000697378.1:n.3234A>G
ENST00000697379.1:c.1829A>G	ENSP00000513287.1:p.Gln610Arg
ENST00000697380.1:n.2006A>G
ENST00000697381.1:n.1409A>G
ENST00000697382.1:c.1829A>G	ENSP00000513288.1:p.Gln610Arg
ENST00000697383.1:c.248A>G	ENSP00000513289.1:p.Gln83Arg
ENST00000261584.9:c.2714A>G MANE Select	ENSP00000261584.4:p.Gln905Arg
ENST00000261584.8:c.2714A>G	ENSP00000261584.4:p.Gln905Arg
ENST00000565038.1:c.286A>G
ENST00000568219.5:c.1829A>G	ENSP00000454703.2:p.Gln610Arg
NM_024675.3:c.2714A>G , LRG_308t1:c.2714A>G	NP_078951.2:p.Gln905Arg
XM_011545946.1:c.2720A>G	XP_011544248.1:p.Gln907Arg
XM_011545947.1:c.2720A>G	XP_011544249.1:p.Gln907Arg
XM_011545948.1:c.1829A>G	XP_011544250.1:p.Gln610Arg
XR_950851.1:n.3510A>G
XM_011545946.2:c.2720A>G	XP_011544248.1:p.Gln907Arg
XM_011545947.2:c.2720A>G	XP_011544249.1:p.Gln907Arg
XM_011545948.2:c.1829A>G	XP_011544250.1:p.Gln610Arg
XM_017023671.1:c.2720A>G	XP_016879160.1:p.Gln907Arg
XM_017023672.2:c.2714A>G	XP_016879161.1:p.Gln905Arg
XM_017023673.2:c.2714A>G	XP_016879162.1:p.Gln905Arg
NM_024675.4:c.2714A>G MANE Select	NP_078951.2:p.Gln905Arg