Canonical Allele Identifier: CA331791

Gene: PALB2

Linked Data

• ClinVar Variation Id: 126602
• ClinVar RCV Id: RCV000114474 ; RCV000454223 ; RCV000599737 ; RCV000859071 ; RCV004542812
• dbSNP Id: rs515726068
• ExAC: 16:23646436 G / A
• gnomAD v2: 16-23646436-G-A
• gnomAD v3: 16-23635115-G-A
• gnomAD v4: 16-23635115-G-A
• MyVariant Identifiers: chr16:g.23646436G>A (hg19) ; chr16:g.23635115G>A (hg38)
• PubMed: PMID:23448497 ; PMID:23935836 ; PMID:26283626

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635115G>A , CM000678.2:g.23635115G>A	GRCh38
NC_000016.9:g.23646436G>A , CM000678.1:g.23646436G>A	GRCh37
NC_000016.8:g.23553937G>A	NCBI36
NG_007406.1:g.11243C>T , LRG_308:g.11243C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1437C>T	ENSP00000460666.3:p.Thr479=
ENST00000565038.2:c.211+2735C>T	ENSP00000459882.2:n.211+2735C>T
ENST00000566069.6:c.1431C>T	ENSP00000459237.2:p.Thr477=
ENST00000697377.2:c.1437C>T	ENSP00000513286.2:p.Thr479=
ENST00000697379.2:c.1437C>T	ENSP00000513287.2:p.Thr479=
ENST00000561514.2:c.546C>T	ENSP00000460666.2:p.Thr182=
ENST00000697374.1:c.546C>T	ENSP00000513284.1:p.Thr182=
ENST00000697375.1:n.2778C>T
ENST00000697376.1:c.546C>T	ENSP00000513285.1:p.Thr182=
ENST00000697377.1:c.546C>T	ENSP00000513286.1:p.Thr182=
ENST00000697378.1:n.1951C>T
ENST00000697379.1:c.546C>T	ENSP00000513287.1:p.Thr182=
ENST00000697382.1:c.546C>T	ENSP00000513288.1:p.Thr182=
ENST00000697383.1:c.49-5840C>T	ENSP00000513289.1:n.49-5840C>T
ENST00000697384.1:n.1585C>T
ENST00000261584.9:c.1431C>T MANE Select	ENSP00000261584.4:p.Thr477=
ENST00000261584.8:c.1431C>T	ENSP00000261584.4:p.Thr477=
ENST00000565038.1:c.86+2735C>T
ENST00000568219.5:c.546C>T	ENSP00000454703.2:p.Thr182=
NM_024675.3:c.1431C>T , LRG_308t1:c.1431C>T	NP_078951.2:p.Thr477=
XM_011545946.1:c.1437C>T	XP_011544248.1:p.Thr479=
XM_011545947.1:c.1437C>T	XP_011544249.1:p.Thr479=
XM_011545948.1:c.546C>T	XP_011544250.1:p.Thr182=
XR_950851.1:n.2227C>T
XM_011545946.2:c.1437C>T	XP_011544248.1:p.Thr479=
XM_011545947.2:c.1437C>T	XP_011544249.1:p.Thr479=
XM_011545948.2:c.546C>T	XP_011544250.1:p.Thr182=
XM_017023671.1:c.1437C>T	XP_016879160.1:p.Thr479=
XM_017023672.2:c.1431C>T	XP_016879161.1:p.Thr477=
XM_017023673.2:c.1431C>T	XP_016879162.1:p.Thr477=
NM_024675.4:c.1431C>T MANE Select	NP_078951.2:p.Thr477=