Canonical Allele Identifier: CA299687

Gene: PALB2

Linked Data

• ClinVar Variation Id: 182753
• ClinVar RCV Id: RCV000160825 ; RCV000561746
• dbSNP Id: rs730881875
• ExAC: 16:23652483 C / A
• gnomAD v2: 16-23652483-C-A
• gnomAD v4: 16-23641162-C-A
• MyVariant Identifiers: chr16:g.23652483C>A (hg19) ; chr16:g.23641162C>A (hg38)
• PubMed: PMID:25980754

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641162C>A , CM000678.2:g.23641162C>A	GRCh38
NC_000016.9:g.23652483C>A , CM000678.1:g.23652483C>A	GRCh37
NC_000016.8:g.23559984C>A	NCBI36
NG_007406.1:g.5196G>T , LRG_308:g.5196G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.-857G>T	ENSP00000460666.3:n.-857G>T
ENST00000565038.2:c.-5G>T	ENSP00000459882.2:n.-5G>T
ENST00000566069.6:c.-5G>T	ENSP00000459237.2:n.-5G>T
ENST00000697377.2:c.-244G>T	ENSP00000513286.2:n.-244G>T
ENST00000697379.2:c.-150G>T	ENSP00000513287.2:n.-150G>T
ENST00000561514.2:c.-1748G>T	ENSP00000460666.2:n.-1748G>T
ENST00000697374.1:c.-1339G>T	ENSP00000513284.1:n.-1339G>T
ENST00000697376.1:c.-1060G>T	ENSP00000513285.1:n.-1060G>T
ENST00000697377.1:c.-1135G>T	ENSP00000513286.1:n.-1135G>T
ENST00000697379.1:c.-1041G>T	ENSP00000513287.1:n.-1041G>T
ENST00000697382.1:c.-1799G>T	ENSP00000513288.1:n.-1799G>T
ENST00000697383.1:c.-5G>T	ENSP00000513289.1:n.-5G>T
ENST00000697384.1:n.150G>T
ENST00000261584.9:c.-5G>T MANE Select	ENSP00000261584.4:n.-5G>T
ENST00000261584.8:c.-5G>T	ENSP00000261584.4:n.-5G>T
ENST00000567003.1:n.140G>T
ENST00000568219.5:c.-873G>T	ENSP00000454703.2:n.-873G>T
NM_024675.3:c.-5G>T , LRG_308t1:c.-5G>T	NP_078951.2:n.-5G>T
XM_011545948.1:c.-1024G>T	XP_011544250.1:n.-1024G>T
XM_011545946.2:c.-857G>T	XP_011544248.1:n.-857G>T
XM_011545947.2:c.-857G>T	XP_011544249.1:n.-857G>T
XM_011545948.2:c.-1024G>T	XP_011544250.1:n.-1024G>T
XM_017023671.1:c.-857G>T	XP_016879160.1:n.-857G>T
XM_017023672.2:c.-5G>T	XP_016879161.1:n.-5G>T
XM_017023673.2:c.-5G>T	XP_016879162.1:n.-5G>T
NM_024675.4:c.-5G>T MANE Select	NP_078951.2:n.-5G>T