Canonical Allele Identifier: CA494180379

Gene: PALB2

Linked Data

• dbSNP Id: rs2142334725
• MyVariant Identifiers: chr16:g.23634313G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23622992G>C , CM000678.2:g.23622992G>C	GRCh38
NC_000016.9:g.23634313G>C , CM000678.1:g.23634313G>C	GRCh37
NC_000016.8:g.23541814G>C	NCBI36
NG_007406.1:g.23366C>G , LRG_308:g.23366C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2979C>G	ENSP00000460666.3:p.Val993=
ENST00000565038.2:c.*454C>G	ENSP00000459882.2:n.*454C>G
ENST00000566069.6:c.2973C>G	ENSP00000459237.2:p.Val991=
ENST00000697377.2:c.2817C>G	ENSP00000513286.2:p.Val939=
ENST00000697379.2:c.2979C>G	ENSP00000513287.2:p.Val993=
ENST00000561514.2:c.2088C>G	ENSP00000460666.2:p.Val696=
ENST00000697374.1:c.2088C>G	ENSP00000513284.1:p.Val696=
ENST00000697375.1:n.4320C>G
ENST00000697376.1:c.2088C>G	ENSP00000513285.1:p.Val696=
ENST00000697377.1:c.1926C>G	ENSP00000513286.1:p.Val642=
ENST00000697378.1:n.3493C>G
ENST00000697379.1:c.2088C>G	ENSP00000513287.1:p.Val696=
ENST00000697380.1:n.2265C>G
ENST00000697381.1:n.1668C>G
ENST00000697382.1:c.2088C>G	ENSP00000513288.1:p.Val696=
ENST00000697383.1:c.507C>G	ENSP00000513289.1:p.Val169=
ENST00000261584.9:c.2973C>G MANE Select	ENSP00000261584.4:p.Val991=
ENST00000261584.8:c.2973C>G	ENSP00000261584.4:p.Val991=
ENST00000568219.5:c.2088C>G	ENSP00000454703.2:p.Val696=
NM_024675.3:c.2973C>G , LRG_308t1:c.2973C>G	NP_078951.2:p.Val991=
XM_011545946.1:c.2979C>G	XP_011544248.1:p.Val993=
XM_011545947.1:c.2979C>G	XP_011544249.1:p.Val993=
XM_011545948.1:c.2088C>G	XP_011544250.1:p.Val696=
XR_950851.1:n.3769C>G
XM_011545946.2:c.2979C>G	XP_011544248.1:p.Val993=
XM_011545947.2:c.2979C>G	XP_011544249.1:p.Val993=
XM_011545948.2:c.2088C>G	XP_011544250.1:p.Val696=
XM_017023671.1:c.2979C>G	XP_016879160.1:p.Val993=
XM_017023672.2:c.2973C>G	XP_016879161.1:p.Val991=
XM_017023673.2:c.2973C>G	XP_016879162.1:p.Val991=
NM_024675.4:c.2973C>G MANE Select	NP_078951.2:p.Val991=