Canonical Allele Identifier: CA395139894

Gene: PALB2

Linked Data

• ClinVar Variation Id: 920670
• ClinVar RCV Id: RCV001179527
• dbSNP Id: rs1966511593
• MyVariant Identifiers: chr16:g.23619292C>G (hg19) ; chr16:g.23607971C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607971C>G , CM000678.2:g.23607971C>G	GRCh38
NC_000016.9:g.23619292C>G , CM000678.1:g.23619292C>G	GRCh37
NC_000016.8:g.23526793C>G	NCBI36
NG_007406.1:g.38387G>C , LRG_308:g.38387G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3249G>C	ENSP00000460666.3:p.Glu1083Asp
ENST00000565038.2:c.*724G>C	ENSP00000459882.2:n.*724G>C
ENST00000566069.6:c.3202-4302G>C	ENSP00000459237.2:n.3202-4302G>C
ENST00000697377.2:c.3087G>C	ENSP00000513286.2:p.Glu1029Asp
ENST00000697379.2:c.3249G>C	ENSP00000513287.2:p.Glu1083Asp
ENST00000561514.2:c.2358G>C	ENSP00000460666.2:p.Glu786Asp
ENST00000697374.1:c.2358G>C	ENSP00000513284.1:p.Glu786Asp
ENST00000697375.1:n.4590G>C
ENST00000697376.1:c.2317-4302G>C	ENSP00000513285.1:n.2317-4302G>C
ENST00000697377.1:c.2196G>C	ENSP00000513286.1:p.Glu732Asp
ENST00000697378.1:n.3763G>C
ENST00000697379.1:c.2358G>C	ENSP00000513287.1:p.Glu786Asp
ENST00000697380.1:n.2447G>C
ENST00000697381.1:n.1938G>C
ENST00000697382.1:c.*20G>C	ENSP00000513288.1:n.*20G>C
ENST00000697383.1:c.777G>C	ENSP00000513289.1:p.Glu259Asp
ENST00000261584.9:c.3243G>C MANE Select	ENSP00000261584.4:p.Glu1081Asp
ENST00000261584.8:c.3243G>C	ENSP00000261584.4:p.Glu1081Asp
ENST00000566069.5:c.117-4302G>C
ENST00000568219.5:c.2358G>C	ENSP00000454703.2:p.Glu786Asp
NM_024675.3:c.3243G>C , LRG_308t1:c.3243G>C	NP_078951.2:p.Glu1081Asp
XM_011545946.1:c.3249G>C	XP_011544248.1:p.Glu1083Asp
XM_011545947.1:c.3208-4302G>C	XP_011544249.1:n.3208-4302G>C
XM_011545948.1:c.2358G>C	XP_011544250.1:p.Glu786Asp
XR_950851.1:n.3951G>C
XM_011545946.2:c.3249G>C	XP_011544248.1:p.Glu1083Asp
XM_011545947.2:c.3208-4302G>C	XP_011544249.1:n.3208-4302G>C
XM_011545948.2:c.2358G>C	XP_011544250.1:p.Glu786Asp
XM_017023671.1:c.3120-4302G>C	XP_016879160.1:n.3120-4302G>C
XM_017023672.2:c.3114-4302G>C	XP_016879161.1:n.3114-4302G>C
XM_017023673.2:c.3202-4302G>C	XP_016879162.1:n.3202-4302G>C
NM_024675.4:c.3243G>C MANE Select	NP_078951.2:p.Glu1081Asp