Canonical Allele Identifier: CA395138158

Gene: PALB2

Linked Data

• ClinVar Variation Id: 460994
• ClinVar RCV Id: RCV000533343 ; RCV002456088
• dbSNP Id: rs879254033
• COSMIC: COSM1478672
• MyVariant Identifiers: chr16:g.23614905G>A (hg19) ; chr16:g.23603584G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603584G>A , CM000678.2:g.23603584G>A	GRCh38
NC_000016.9:g.23614905G>A , CM000678.1:g.23614905G>A	GRCh37
NC_000016.8:g.23522406G>A	NCBI36
NG_007406.1:g.42774C>T , LRG_308:g.42774C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3442C>T	ENSP00000460666.3:p.Gln1148Ter
ENST00000565038.2:c.*921C>T	ENSP00000459882.2:n.*921C>T
ENST00000566069.6:c.*71C>T	ENSP00000459237.2:n.*71C>T
ENST00000697377.2:c.3280C>T	ENSP00000513286.2:p.Gln1094Ter
ENST00000697379.2:c.3442C>T	ENSP00000513287.2:p.Gln1148Ter
ENST00000561514.2:c.2551C>T	ENSP00000460666.2:p.Gln851Ter
ENST00000697374.1:c.2551C>T	ENSP00000513284.1:p.Gln851Ter
ENST00000697375.1:n.4783C>T
ENST00000697376.1:c.*71C>T	ENSP00000513285.1:n.*71C>T
ENST00000697377.1:c.2389C>T	ENSP00000513286.1:p.Gln797Ter
ENST00000697378.1:n.3956C>T
ENST00000697379.1:c.2551C>T	ENSP00000513287.1:p.Gln851Ter
ENST00000697380.1:n.2640C>T
ENST00000697381.1:n.2131C>T
ENST00000697382.1:c.*213C>T	ENSP00000513288.1:n.*213C>T
ENST00000697383.1:c.970C>T	ENSP00000513289.1:p.Gln324Ter
ENST00000261584.9:c.3436C>T MANE Select	ENSP00000261584.4:p.Gln1146Ter
ENST00000261584.8:c.3436C>T	ENSP00000261584.4:p.Gln1146Ter
ENST00000566069.5:c.202C>T
ENST00000568219.5:c.2551C>T	ENSP00000454703.2:p.Gln851Ter
NM_024675.3:c.3436C>T , LRG_308t1:c.3436C>T	NP_078951.2:p.Gln1146Ter
XM_011545946.1:c.3442C>T	XP_011544248.1:p.Gln1148Ter
XM_011545947.1:c.*71C>T	XP_011544249.1:n.*71C>T
XM_011545948.1:c.2551C>T	XP_011544250.1:p.Gln851Ter
XR_950851.1:n.4144C>T
XM_011545946.2:c.3442C>T	XP_011544248.1:p.Gln1148Ter
XM_011545947.2:c.*71C>T	XP_011544249.1:n.*71C>T
XM_011545948.2:c.2551C>T	XP_011544250.1:p.Gln851Ter
XM_017023671.1:c.3205C>T	XP_016879160.1:p.Gln1069Ter
XM_017023672.2:c.3199C>T	XP_016879161.1:p.Gln1067Ter
XM_017023673.2:c.*71C>T	XP_016879162.1:n.*71C>T
NM_024675.4:c.3436C>T MANE Select	NP_078951.2:p.Gln1146Ter