Canonical Allele Identifier: CA395139874

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23619291T>G (hg19) ; chr16:g.23607970T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607970T>G , CM000678.2:g.23607970T>G	GRCh38
NC_000016.9:g.23619291T>G , CM000678.1:g.23619291T>G	GRCh37
NC_000016.8:g.23526792T>G	NCBI36
NG_007406.1:g.38388A>C , LRG_308:g.38388A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3250A>C	ENSP00000460666.3:p.Ser1084Arg
ENST00000565038.2:c.*725A>C	ENSP00000459882.2:n.*725A>C
ENST00000566069.6:c.3202-4301A>C	ENSP00000459237.2:n.3202-4301A>C
ENST00000697377.2:c.3088A>C	ENSP00000513286.2:p.Ser1030Arg
ENST00000697379.2:c.3250A>C	ENSP00000513287.2:p.Ser1084Arg
ENST00000561514.2:c.2359A>C	ENSP00000460666.2:p.Ser787Arg
ENST00000697374.1:c.2359A>C	ENSP00000513284.1:p.Ser787Arg
ENST00000697375.1:n.4591A>C
ENST00000697376.1:c.2317-4301A>C	ENSP00000513285.1:n.2317-4301A>C
ENST00000697377.1:c.2197A>C	ENSP00000513286.1:p.Ser733Arg
ENST00000697378.1:n.3764A>C
ENST00000697379.1:c.2359A>C	ENSP00000513287.1:p.Ser787Arg
ENST00000697380.1:n.2448A>C
ENST00000697381.1:n.1939A>C
ENST00000697382.1:c.*21A>C	ENSP00000513288.1:n.*21A>C
ENST00000697383.1:c.778A>C	ENSP00000513289.1:p.Ser260Arg
ENST00000261584.9:c.3244A>C MANE Select	ENSP00000261584.4:p.Ser1082Arg
ENST00000261584.8:c.3244A>C	ENSP00000261584.4:p.Ser1082Arg
ENST00000566069.5:c.117-4301A>C
ENST00000568219.5:c.2359A>C	ENSP00000454703.2:p.Ser787Arg
NM_024675.3:c.3244A>C , LRG_308t1:c.3244A>C	NP_078951.2:p.Ser1082Arg
XM_011545946.1:c.3250A>C	XP_011544248.1:p.Ser1084Arg
XM_011545947.1:c.3208-4301A>C	XP_011544249.1:n.3208-4301A>C
XM_011545948.1:c.2359A>C	XP_011544250.1:p.Ser787Arg
XR_950851.1:n.3952A>C
XM_011545946.2:c.3250A>C	XP_011544248.1:p.Ser1084Arg
XM_011545947.2:c.3208-4301A>C	XP_011544249.1:n.3208-4301A>C
XM_011545948.2:c.2359A>C	XP_011544250.1:p.Ser787Arg
XM_017023671.1:c.3120-4301A>C	XP_016879160.1:n.3120-4301A>C
XM_017023672.2:c.3114-4301A>C	XP_016879161.1:n.3114-4301A>C
XM_017023673.2:c.3202-4301A>C	XP_016879162.1:n.3202-4301A>C
NM_024675.4:c.3244A>C MANE Select	NP_078951.2:p.Ser1082Arg