Canonical Allele Identifier: CA395137616

Gene: PALB2

Linked Data

• ClinVar Variation Id: 496467
• ClinVar RCV Id: RCV000590060 ; RCV000635895 ; RCV002456292
• dbSNP Id: rs878855120
• gnomAD v4: 16-23603467-A-C
• MyVariant Identifiers: chr16:g.23614788A>C (hg19) ; chr16:g.23603467A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603467A>C , CM000678.2:g.23603467A>C	GRCh38
NC_000016.9:g.23614788A>C , CM000678.1:g.23614788A>C	GRCh37
NC_000016.8:g.23522289A>C	NCBI36
NG_007406.1:g.42891T>G , LRG_308:g.42891T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3559T>G	ENSP00000460666.3:p.Tyr1187Asp
ENST00000565038.2:c.*1038T>G	ENSP00000459882.2:n.*1038T>G
ENST00000566069.6:c.*188T>G	ENSP00000459237.2:n.*188T>G
ENST00000697377.2:c.3397T>G	ENSP00000513286.2:p.Tyr1133Asp
ENST00000697379.2:c.3559T>G	ENSP00000513287.2:p.Tyr1187Asp
ENST00000561514.2:c.2668T>G	ENSP00000460666.2:p.Tyr890Asp
ENST00000697374.1:c.2668T>G	ENSP00000513284.1:p.Tyr890Asp
ENST00000697375.1:n.4900T>G
ENST00000697376.1:c.*188T>G	ENSP00000513285.1:n.*188T>G
ENST00000697377.1:c.2506T>G	ENSP00000513286.1:p.Tyr836Asp
ENST00000697378.1:n.4073T>G
ENST00000697379.1:c.2668T>G	ENSP00000513287.1:p.Tyr890Asp
ENST00000697380.1:n.2757T>G
ENST00000697381.1:n.2248T>G
ENST00000697382.1:c.*330T>G	ENSP00000513288.1:n.*330T>G
ENST00000697383.1:c.1087T>G	ENSP00000513289.1:p.Tyr363Asp
ENST00000261584.9:c.3553T>G MANE Select	ENSP00000261584.4:p.Tyr1185Asp
ENST00000261584.8:c.3553T>G	ENSP00000261584.4:p.Tyr1185Asp
ENST00000566069.5:c.319T>G
ENST00000568219.5:c.2668T>G	ENSP00000454703.2:p.Tyr890Asp
NM_024675.3:c.3553T>G , LRG_308t1:c.3553T>G	NP_078951.2:p.Tyr1185Asp
XM_011545946.1:c.3559T>G	XP_011544248.1:p.Tyr1187Asp
XM_011545947.1:c.*188T>G	XP_011544249.1:n.*188T>G
XM_011545948.1:c.2668T>G	XP_011544250.1:p.Tyr890Asp
XR_950851.1:n.4261T>G
XM_011545946.2:c.3559T>G	XP_011544248.1:p.Tyr1187Asp
XM_011545947.2:c.*188T>G	XP_011544249.1:n.*188T>G
XM_011545948.2:c.2668T>G	XP_011544250.1:p.Tyr890Asp
XM_017023671.1:c.3322T>G	XP_016879160.1:p.Tyr1108Asp
XM_017023672.2:c.3316T>G	XP_016879161.1:p.Tyr1106Asp
XM_017023673.2:c.*188T>G	XP_016879162.1:n.*188T>G
NM_024675.4:c.3553T>G MANE Select	NP_078951.2:p.Tyr1185Asp