Canonical Allele Identifier: CA7963462

Gene: PALB2

Linked Data

• ClinVar Variation Id: 484162
• ClinVar RCV Id: RCV000572069 ; RCV000635674
• dbSNP Id: rs139726856
• ExAC: 16:23634333 A / G
• gnomAD v2: 16-23634333-A-G
• gnomAD v3: 16-23623012-A-G
• gnomAD v4: 16-23623012-A-G
• MyVariant Identifiers: chr16:g.23634333A>G (hg19) ; chr16:g.23623012A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623012A>G , CM000678.2:g.23623012A>G	GRCh38
NC_000016.9:g.23634333A>G , CM000678.1:g.23634333A>G	GRCh37
NC_000016.8:g.23541834A>G	NCBI36
NG_007406.1:g.23346T>C , LRG_308:g.23346T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2959T>C	ENSP00000460666.3:p.Ser987Pro
ENST00000565038.2:c.*434T>C	ENSP00000459882.2:n.*434T>C
ENST00000566069.6:c.2953T>C	ENSP00000459237.2:p.Ser985Pro
ENST00000697377.2:c.2797T>C	ENSP00000513286.2:p.Ser933Pro
ENST00000697379.2:c.2959T>C	ENSP00000513287.2:p.Ser987Pro
ENST00000561514.2:c.2068T>C	ENSP00000460666.2:p.Ser690Pro
ENST00000697374.1:c.2068T>C	ENSP00000513284.1:p.Ser690Pro
ENST00000697375.1:n.4300T>C
ENST00000697376.1:c.2068T>C	ENSP00000513285.1:p.Ser690Pro
ENST00000697377.1:c.1906T>C	ENSP00000513286.1:p.Ser636Pro
ENST00000697378.1:n.3473T>C
ENST00000697379.1:c.2068T>C	ENSP00000513287.1:p.Ser690Pro
ENST00000697380.1:n.2245T>C
ENST00000697381.1:n.1648T>C
ENST00000697382.1:c.2068T>C	ENSP00000513288.1:p.Ser690Pro
ENST00000697383.1:c.487T>C	ENSP00000513289.1:p.Ser163Pro
ENST00000261584.9:c.2953T>C MANE Select	ENSP00000261584.4:p.Ser985Pro
ENST00000261584.8:c.2953T>C	ENSP00000261584.4:p.Ser985Pro
ENST00000568219.5:c.2068T>C	ENSP00000454703.2:p.Ser690Pro
NM_024675.3:c.2953T>C , LRG_308t1:c.2953T>C	NP_078951.2:p.Ser985Pro
XM_011545946.1:c.2959T>C	XP_011544248.1:p.Ser987Pro
XM_011545947.1:c.2959T>C	XP_011544249.1:p.Ser987Pro
XM_011545948.1:c.2068T>C	XP_011544250.1:p.Ser690Pro
XR_950851.1:n.3749T>C
XM_011545946.2:c.2959T>C	XP_011544248.1:p.Ser987Pro
XM_011545947.2:c.2959T>C	XP_011544249.1:p.Ser987Pro
XM_011545948.2:c.2068T>C	XP_011544250.1:p.Ser690Pro
XM_017023671.1:c.2959T>C	XP_016879160.1:p.Ser987Pro
XM_017023672.2:c.2953T>C	XP_016879161.1:p.Ser985Pro
XM_017023673.2:c.2953T>C	XP_016879162.1:p.Ser985Pro
NM_024675.4:c.2953T>C MANE Select	NP_078951.2:p.Ser985Pro