Canonical Allele Identifier: CA494180392

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1798132
• ClinVar RCV Id: RCV002441946
• dbSNP Id: rs1966799873
• MyVariant Identifiers: chr16:g.23634328A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623007A>G , CM000678.2:g.23623007A>G	GRCh38
NC_000016.9:g.23634328A>G , CM000678.1:g.23634328A>G	GRCh37
NC_000016.8:g.23541829A>G	NCBI36
NG_007406.1:g.23351T>C , LRG_308:g.23351T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2964T>C	ENSP00000460666.3:p.Asp988=
ENST00000565038.2:c.*439T>C	ENSP00000459882.2:n.*439T>C
ENST00000566069.6:c.2958T>C	ENSP00000459237.2:p.Asp986=
ENST00000697377.2:c.2802T>C	ENSP00000513286.2:p.Asp934=
ENST00000697379.2:c.2964T>C	ENSP00000513287.2:p.Asp988=
ENST00000561514.2:c.2073T>C	ENSP00000460666.2:p.Asp691=
ENST00000697374.1:c.2073T>C	ENSP00000513284.1:p.Asp691=
ENST00000697375.1:n.4305T>C
ENST00000697376.1:c.2073T>C	ENSP00000513285.1:p.Asp691=
ENST00000697377.1:c.1911T>C	ENSP00000513286.1:p.Asp637=
ENST00000697378.1:n.3478T>C
ENST00000697379.1:c.2073T>C	ENSP00000513287.1:p.Asp691=
ENST00000697380.1:n.2250T>C
ENST00000697381.1:n.1653T>C
ENST00000697382.1:c.2073T>C	ENSP00000513288.1:p.Asp691=
ENST00000697383.1:c.492T>C	ENSP00000513289.1:p.Asp164=
ENST00000261584.9:c.2958T>C MANE Select	ENSP00000261584.4:p.Asp986=
ENST00000261584.8:c.2958T>C	ENSP00000261584.4:p.Asp986=
ENST00000568219.5:c.2073T>C	ENSP00000454703.2:p.Asp691=
NM_024675.3:c.2958T>C , LRG_308t1:c.2958T>C	NP_078951.2:p.Asp986=
XM_011545946.1:c.2964T>C	XP_011544248.1:p.Asp988=
XM_011545947.1:c.2964T>C	XP_011544249.1:p.Asp988=
XM_011545948.1:c.2073T>C	XP_011544250.1:p.Asp691=
XR_950851.1:n.3754T>C
XM_011545946.2:c.2964T>C	XP_011544248.1:p.Asp988=
XM_011545947.2:c.2964T>C	XP_011544249.1:p.Asp988=
XM_011545948.2:c.2073T>C	XP_011544250.1:p.Asp691=
XM_017023671.1:c.2964T>C	XP_016879160.1:p.Asp988=
XM_017023672.2:c.2958T>C	XP_016879161.1:p.Asp986=
XM_017023673.2:c.2958T>C	XP_016879162.1:p.Asp986=
NM_024675.4:c.2958T>C MANE Select	NP_078951.2:p.Asp986=