Canonical Allele Identifier: CA395139435

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23649262T>G (hg19) ; chr16:g.23637941T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23637941T>G , CM000678.2:g.23637941T>G	GRCh38
NC_000016.9:g.23649262T>G , CM000678.1:g.23649262T>G	GRCh37
NC_000016.8:g.23556763T>G	NCBI36
NG_007406.1:g.8417A>C , LRG_308:g.8417A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.126A>C	ENSP00000460666.3:p.Arg42Ser
ENST00000565038.2:c.120A>C	ENSP00000459882.2:p.Arg40Ser
ENST00000566069.6:c.120A>C	ENSP00000459237.2:p.Arg40Ser
ENST00000697377.2:c.126A>C	ENSP00000513286.2:p.Arg42Ser
ENST00000697379.2:c.126A>C	ENSP00000513287.2:p.Arg42Ser
ENST00000561514.2:c.-766A>C	ENSP00000460666.2:n.-766A>C
ENST00000697374.1:c.-766A>C	ENSP00000513284.1:n.-766A>C
ENST00000697375.1:n.1467A>C
ENST00000697376.1:c.-766A>C	ENSP00000513285.1:n.-766A>C
ENST00000697377.1:c.-766A>C	ENSP00000513286.1:n.-766A>C
ENST00000697378.1:n.640A>C
ENST00000697379.1:c.-766A>C	ENSP00000513287.1:n.-766A>C
ENST00000697382.1:c.-766A>C	ENSP00000513288.1:n.-766A>C
ENST00000697383.1:c.48+3169A>C	ENSP00000513289.1:n.48+3169A>C
ENST00000697384.1:n.274A>C
ENST00000261584.9:c.120A>C MANE Select	ENSP00000261584.4:p.Arg40Ser
ENST00000261584.8:c.120A>C	ENSP00000261584.4:p.Arg40Ser
ENST00000561514.1:c.126A>C	ENSP00000460666.1:p.Arg42Ser
ENST00000567003.1:n.398A>C
ENST00000568219.5:c.-766A>C	ENSP00000454703.2:n.-766A>C
NM_024675.3:c.120A>C , LRG_308t1:c.120A>C	NP_078951.2:p.Arg40Ser
XM_011545946.1:c.126A>C	XP_011544248.1:p.Arg42Ser
XM_011545947.1:c.126A>C	XP_011544249.1:p.Arg42Ser
XM_011545948.1:c.-766A>C	XP_011544250.1:n.-766A>C
XR_950851.1:n.916A>C
XM_011545946.2:c.126A>C	XP_011544248.1:p.Arg42Ser
XM_011545947.2:c.126A>C	XP_011544249.1:p.Arg42Ser
XM_011545948.2:c.-766A>C	XP_011544250.1:n.-766A>C
XM_017023671.1:c.126A>C	XP_016879160.1:p.Arg42Ser
XM_017023672.2:c.120A>C	XP_016879161.1:p.Arg40Ser
XM_017023673.2:c.120A>C	XP_016879162.1:p.Arg40Ser
NM_024675.4:c.120A>C MANE Select	NP_078951.2:p.Arg40Ser