Canonical Allele Identifier: CA299753

Gene: PALB2

Linked Data

• ClinVar Variation Id: 182775
• ClinVar RCV Id: RCV000232726 ; RCV000570480 ; RCV000589198 ; RCV000855602 ; RCV001030415 ; RCV002492638
• dbSNP Id: rs730881894
• ExAC: 16:23614937 C / T
• gnomAD v2: 16-23614937-C-T
• gnomAD v3: 16-23603616-C-T
• gnomAD v4: 16-23603616-C-T
• MyVariant Identifiers: chr16:g.23614937C>T (hg19) ; chr16:g.23603616C>T (hg38)
• PubMed: PMID:26580448

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603616C>T , CM000678.2:g.23603616C>T	GRCh38
NC_000016.9:g.23614937C>T , CM000678.1:g.23614937C>T	GRCh37
NC_000016.8:g.23522438C>T	NCBI36
NG_007406.1:g.42742G>A , LRG_308:g.42742G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3410G>A	ENSP00000460666.3:p.Gly1137Glu
ENST00000565038.2:c.*889G>A	ENSP00000459882.2:n.*889G>A
ENST00000566069.6:c.*39G>A	ENSP00000459237.2:n.*39G>A
ENST00000697377.2:c.3248G>A	ENSP00000513286.2:p.Gly1083Glu
ENST00000697379.2:c.3410G>A	ENSP00000513287.2:p.Gly1137Glu
ENST00000561514.2:c.2519G>A	ENSP00000460666.2:p.Gly840Glu
ENST00000697374.1:c.2519G>A	ENSP00000513284.1:p.Gly840Glu
ENST00000697375.1:n.4751G>A
ENST00000697376.1:c.*39G>A	ENSP00000513285.1:n.*39G>A
ENST00000697377.1:c.2357G>A	ENSP00000513286.1:p.Gly786Glu
ENST00000697378.1:n.3924G>A
ENST00000697379.1:c.2519G>A	ENSP00000513287.1:p.Gly840Glu
ENST00000697380.1:n.2608G>A
ENST00000697381.1:n.2099G>A
ENST00000697382.1:c.*181G>A	ENSP00000513288.1:n.*181G>A
ENST00000697383.1:c.938G>A	ENSP00000513289.1:p.Gly313Glu
ENST00000261584.9:c.3404G>A MANE Select	ENSP00000261584.4:p.Gly1135Glu
ENST00000261584.8:c.3404G>A	ENSP00000261584.4:p.Gly1135Glu
ENST00000566069.5:c.170G>A
ENST00000568219.5:c.2519G>A	ENSP00000454703.2:p.Gly840Glu
NM_024675.3:c.3404G>A , LRG_308t1:c.3404G>A	NP_078951.2:p.Gly1135Glu
XM_011545946.1:c.3410G>A	XP_011544248.1:p.Gly1137Glu
XM_011545947.1:c.*39G>A	XP_011544249.1:n.*39G>A
XM_011545948.1:c.2519G>A	XP_011544250.1:p.Gly840Glu
XR_950851.1:n.4112G>A
XM_011545946.2:c.3410G>A	XP_011544248.1:p.Gly1137Glu
XM_011545947.2:c.*39G>A	XP_011544249.1:n.*39G>A
XM_011545948.2:c.2519G>A	XP_011544250.1:p.Gly840Glu
XM_017023671.1:c.3173G>A	XP_016879160.1:p.Gly1058Glu
XM_017023672.2:c.3167G>A	XP_016879161.1:p.Gly1056Glu
XM_017023673.2:c.*39G>A	XP_016879162.1:n.*39G>A
NM_024675.4:c.3404G>A MANE Select	NP_078951.2:p.Gly1135Glu