Canonical Allele Identifier: CA395144433

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23634424T>G (hg19) ; chr16:g.23623103T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623103T>G , CM000678.2:g.23623103T>G	GRCh38
NC_000016.9:g.23634424T>G , CM000678.1:g.23634424T>G	GRCh37
NC_000016.8:g.23541925T>G	NCBI36
NG_007406.1:g.23255A>C , LRG_308:g.23255A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2868A>C	ENSP00000460666.3:p.Glu956Asp
ENST00000565038.2:c.*343A>C	ENSP00000459882.2:n.*343A>C
ENST00000566069.6:c.2862A>C	ENSP00000459237.2:p.Glu954Asp
ENST00000697377.2:c.2706A>C	ENSP00000513286.2:p.Glu902Asp
ENST00000697379.2:c.2868A>C	ENSP00000513287.2:p.Glu956Asp
ENST00000561514.2:c.1977A>C	ENSP00000460666.2:p.Glu659Asp
ENST00000697374.1:c.1977A>C	ENSP00000513284.1:p.Glu659Asp
ENST00000697375.1:n.4209A>C
ENST00000697376.1:c.1977A>C	ENSP00000513285.1:p.Glu659Asp
ENST00000697377.1:c.1815A>C	ENSP00000513286.1:p.Glu605Asp
ENST00000697378.1:n.3382A>C
ENST00000697379.1:c.1977A>C	ENSP00000513287.1:p.Glu659Asp
ENST00000697380.1:n.2154A>C
ENST00000697381.1:n.1557A>C
ENST00000697382.1:c.1977A>C	ENSP00000513288.1:p.Glu659Asp
ENST00000697383.1:c.396A>C	ENSP00000513289.1:p.Glu132Asp
ENST00000261584.9:c.2862A>C MANE Select	ENSP00000261584.4:p.Glu954Asp
ENST00000261584.8:c.2862A>C	ENSP00000261584.4:p.Glu954Asp
ENST00000568219.5:c.1977A>C	ENSP00000454703.2:p.Glu659Asp
NM_024675.3:c.2862A>C , LRG_308t1:c.2862A>C	NP_078951.2:p.Glu954Asp
XM_011545946.1:c.2868A>C	XP_011544248.1:p.Glu956Asp
XM_011545947.1:c.2868A>C	XP_011544249.1:p.Glu956Asp
XM_011545948.1:c.1977A>C	XP_011544250.1:p.Glu659Asp
XR_950851.1:n.3658A>C
XM_011545946.2:c.2868A>C	XP_011544248.1:p.Glu956Asp
XM_011545947.2:c.2868A>C	XP_011544249.1:p.Glu956Asp
XM_011545948.2:c.1977A>C	XP_011544250.1:p.Glu659Asp
XM_017023671.1:c.2868A>C	XP_016879160.1:p.Glu956Asp
XM_017023672.2:c.2862A>C	XP_016879161.1:p.Glu954Asp
XM_017023673.2:c.2862A>C	XP_016879162.1:p.Glu954Asp
NM_024675.4:c.2862A>C MANE Select	NP_078951.2:p.Glu954Asp