Canonical Allele Identifier: CA168342

Gene: PALB2

Linked Data

• ClinVar Variation Id: 142432
• ClinVar RCV Id: RCV000131549 ; RCV000557471 ; RCV000432017 ; RCV002265620
• dbSNP Id: rs587782462
• gnomAD v2: 16-23652461-C-A
• MyVariant Identifiers: chr16:g.23652461C>A (hg19) ; chr16:g.23641140C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641140C>A , CM000678.2:g.23641140C>A	GRCh38
NC_000016.9:g.23652461C>A , CM000678.1:g.23652461C>A	GRCh37
NC_000016.8:g.23559962C>A	NCBI36
NG_007406.1:g.5218G>T , LRG_308:g.5218G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-835G>T	ENSP00000460666.3:n.-835G>T
ENST00000565038.2:c.18G>T	ENSP00000459882.2:p.Gly6=
ENST00000566069.6:c.18G>T	ENSP00000459237.2:p.Gly6=
ENST00000697377.2:c.-222G>T	ENSP00000513286.2:n.-222G>T
ENST00000697379.2:c.-128G>T	ENSP00000513287.2:n.-128G>T
ENST00000561514.2:c.-1726G>T	ENSP00000460666.2:n.-1726G>T
ENST00000697374.1:c.-1317G>T	ENSP00000513284.1:n.-1317G>T
ENST00000697376.1:c.-1038G>T	ENSP00000513285.1:n.-1038G>T
ENST00000697377.1:c.-1113G>T	ENSP00000513286.1:n.-1113G>T
ENST00000697379.1:c.-1019G>T	ENSP00000513287.1:n.-1019G>T
ENST00000697382.1:c.-1777G>T	ENSP00000513288.1:n.-1777G>T
ENST00000697383.1:c.18G>T	ENSP00000513289.1:p.Gly6=
ENST00000697384.1:n.172G>T
ENST00000261584.9:c.18G>T MANE Select	ENSP00000261584.4:p.Gly6=
ENST00000261584.8:c.18G>T	ENSP00000261584.4:p.Gly6=
ENST00000567003.1:n.162G>T
ENST00000568219.5:c.-851G>T	ENSP00000454703.2:n.-851G>T
NM_024675.3:c.18G>T , LRG_308t1:c.18G>T	NP_078951.2:p.Gly6=
XM_011545948.1:c.-1002G>T	XP_011544250.1:n.-1002G>T
XM_011545946.2:c.-835G>T	XP_011544248.1:n.-835G>T
XM_011545947.2:c.-835G>T	XP_011544249.1:n.-835G>T
XM_011545948.2:c.-1002G>T	XP_011544250.1:n.-1002G>T
XM_017023671.1:c.-835G>T	XP_016879160.1:n.-835G>T
XM_017023672.2:c.18G>T	XP_016879161.1:p.Gly6=
XM_017023673.2:c.18G>T	XP_016879162.1:p.Gly6=
NM_024675.4:c.18G>T MANE Select	NP_078951.2:p.Gly6=