Canonical Allele Identifier: CA10575850

Gene: PALB2

Linked Data

• ClinVar Variation Id: 221914
• ClinVar RCV Id: RCV000416712 ; RCV000255651 ; RCV000409735 ; RCV000568484 ; RCV001358472
• dbSNP Id: rs375699023
• gnomAD v4: 16-23635504-G-A
• MyVariant Identifiers: chr16:g.23646825G>A (hg19) ; chr16:g.23635504G>A (hg38)
• PubMed: PMID:27067391

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635504G>A , CM000678.2:g.23635504G>A	GRCh38
NC_000016.9:g.23646825G>A , CM000678.1:g.23646825G>A	GRCh37
NC_000016.8:g.23554326G>A	NCBI36
NG_007406.1:g.10854C>T , LRG_308:g.10854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1048C>T	ENSP00000460666.3:p.Gln350Ter
ENST00000565038.2:c.211+2346C>T	ENSP00000459882.2:n.211+2346C>T
ENST00000566069.6:c.1042C>T	ENSP00000459237.2:p.Gln348Ter
ENST00000697377.2:c.1048C>T	ENSP00000513286.2:p.Gln350Ter
ENST00000697379.2:c.1048C>T	ENSP00000513287.2:p.Gln350Ter
ENST00000561514.2:c.157C>T	ENSP00000460666.2:p.Gln53Ter
ENST00000697374.1:c.157C>T	ENSP00000513284.1:p.Gln53Ter
ENST00000697375.1:n.2389C>T
ENST00000697376.1:c.157C>T	ENSP00000513285.1:p.Gln53Ter
ENST00000697377.1:c.157C>T	ENSP00000513286.1:p.Gln53Ter
ENST00000697378.1:n.1562C>T
ENST00000697379.1:c.157C>T	ENSP00000513287.1:p.Gln53Ter
ENST00000697382.1:c.157C>T	ENSP00000513288.1:p.Gln53Ter
ENST00000697383.1:c.48+5606C>T	ENSP00000513289.1:n.48+5606C>T
ENST00000697384.1:n.1196C>T
ENST00000261584.9:c.1042C>T MANE Select	ENSP00000261584.4:p.Gln348Ter
ENST00000261584.8:c.1042C>T	ENSP00000261584.4:p.Gln348Ter
ENST00000565038.1:c.86+2346C>T
ENST00000568219.5:c.157C>T	ENSP00000454703.2:p.Gln53Ter
NM_024675.3:c.1042C>T , LRG_308t1:c.1042C>T	NP_078951.2:p.Gln348Ter
XM_011545946.1:c.1048C>T	XP_011544248.1:p.Gln350Ter
XM_011545947.1:c.1048C>T	XP_011544249.1:p.Gln350Ter
XM_011545948.1:c.157C>T	XP_011544250.1:p.Gln53Ter
XR_950851.1:n.1838C>T
XM_011545946.2:c.1048C>T	XP_011544248.1:p.Gln350Ter
XM_011545947.2:c.1048C>T	XP_011544249.1:p.Gln350Ter
XM_011545948.2:c.157C>T	XP_011544250.1:p.Gln53Ter
XM_017023671.1:c.1048C>T	XP_016879160.1:p.Gln350Ter
XM_017023672.2:c.1042C>T	XP_016879161.1:p.Gln348Ter
XM_017023673.2:c.1042C>T	XP_016879162.1:p.Gln348Ter
NM_024675.4:c.1042C>T MANE Select	NP_078951.2:p.Gln348Ter