Canonical Allele Identifier: CA395138389

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23614981T>G (hg19) ; chr16:g.23603660T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603660T>G , CM000678.2:g.23603660T>G	GRCh38
NC_000016.9:g.23614981T>G , CM000678.1:g.23614981T>G	GRCh37
NC_000016.8:g.23522482T>G	NCBI36
NG_007406.1:g.42698A>C , LRG_308:g.42698A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3366A>C	ENSP00000460666.3:p.Glu1122Asp
ENST00000565038.2:c.*845A>C	ENSP00000459882.2:n.*845A>C
ENST00000566069.6:c.3211A>C	ENSP00000459237.2:p.Arg1071=
ENST00000697377.2:c.3204A>C	ENSP00000513286.2:p.Glu1068Asp
ENST00000697379.2:c.3366A>C	ENSP00000513287.2:p.Glu1122Asp
ENST00000561514.2:c.2475A>C	ENSP00000460666.2:p.Glu825Asp
ENST00000697374.1:c.2475A>C	ENSP00000513284.1:p.Glu825Asp
ENST00000697375.1:n.4707A>C
ENST00000697376.1:c.2326A>C	ENSP00000513285.1:p.Arg776=
ENST00000697377.1:c.2313A>C	ENSP00000513286.1:p.Glu771Asp
ENST00000697378.1:n.3880A>C
ENST00000697379.1:c.2475A>C	ENSP00000513287.1:p.Glu825Asp
ENST00000697380.1:n.2564A>C
ENST00000697381.1:n.2055A>C
ENST00000697382.1:c.*137A>C	ENSP00000513288.1:n.*137A>C
ENST00000697383.1:c.894A>C	ENSP00000513289.1:p.Glu298Asp
ENST00000261584.9:c.3360A>C MANE Select	ENSP00000261584.4:p.Glu1120Asp
ENST00000261584.8:c.3360A>C	ENSP00000261584.4:p.Glu1120Asp
ENST00000566069.5:c.126A>C
ENST00000568219.5:c.2475A>C	ENSP00000454703.2:p.Glu825Asp
NM_024675.3:c.3360A>C , LRG_308t1:c.3360A>C	NP_078951.2:p.Glu1120Asp
XM_011545946.1:c.3366A>C	XP_011544248.1:p.Glu1122Asp
XM_011545947.1:c.3217A>C	XP_011544249.1:p.Arg1073=
XM_011545948.1:c.2475A>C	XP_011544250.1:p.Glu825Asp
XR_950851.1:n.4068A>C
XM_011545946.2:c.3366A>C	XP_011544248.1:p.Glu1122Asp
XM_011545947.2:c.3217A>C	XP_011544249.1:p.Arg1073=
XM_011545948.2:c.2475A>C	XP_011544250.1:p.Glu825Asp
XM_017023671.1:c.3129A>C	XP_016879160.1:p.Glu1043Asp
XM_017023672.2:c.3123A>C	XP_016879161.1:p.Glu1041Asp
XM_017023673.2:c.3211A>C	XP_016879162.1:p.Arg1071=
NM_024675.4:c.3360A>C MANE Select	NP_078951.2:p.Glu1120Asp