Canonical Allele Identifier: CA288398

Gene: PALB2

Linked Data

• ClinVar Variation Id: 126595
• ClinVar RCV Id: RCV000114466 ; RCV000116065 ; RCV000590540 ; RCV001255214 ; RCV003483472
• dbSNP Id: rs45510998
• ExAC: 16:23646617 G / T
• gnomAD v2: 16-23646617-G-T
• gnomAD v3: 16-23635296-G-T
• gnomAD v4: 16-23635296-G-T
• MyVariant Identifiers: chr16:g.23646617G>T (hg19) ; chr16:g.23635296G>T (hg38)
• PubMed: PMID:17200668 ; PMID:22241545 ; PMID:23555315 ; PMID:25980754 ; PMID:26283626 ; PMID:26315354 ; PMID:26976419

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635296G>T , CM000678.2:g.23635296G>T	GRCh38
NC_000016.9:g.23646617G>T , CM000678.1:g.23646617G>T	GRCh37
NC_000016.8:g.23554118G>T	NCBI36
NG_007406.1:g.11062C>A , LRG_308:g.11062C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1256C>A	ENSP00000460666.3:p.Ser419Tyr
ENST00000565038.2:c.211+2554C>A	ENSP00000459882.2:n.211+2554C>A
ENST00000566069.6:c.1250C>A	ENSP00000459237.2:p.Ser417Tyr
ENST00000697377.2:c.1256C>A	ENSP00000513286.2:p.Ser419Tyr
ENST00000697379.2:c.1256C>A	ENSP00000513287.2:p.Ser419Tyr
ENST00000561514.2:c.365C>A	ENSP00000460666.2:p.Ser122Tyr
ENST00000697374.1:c.365C>A	ENSP00000513284.1:p.Ser122Tyr
ENST00000697375.1:n.2597C>A
ENST00000697376.1:c.365C>A	ENSP00000513285.1:p.Ser122Tyr
ENST00000697377.1:c.365C>A	ENSP00000513286.1:p.Ser122Tyr
ENST00000697378.1:n.1770C>A
ENST00000697379.1:c.365C>A	ENSP00000513287.1:p.Ser122Tyr
ENST00000697382.1:c.365C>A	ENSP00000513288.1:p.Ser122Tyr
ENST00000697383.1:c.48+5814C>A	ENSP00000513289.1:n.48+5814C>A
ENST00000697384.1:n.1404C>A
ENST00000261584.9:c.1250C>A MANE Select	ENSP00000261584.4:p.Ser417Tyr
ENST00000261584.8:c.1250C>A	ENSP00000261584.4:p.Ser417Tyr
ENST00000565038.1:c.86+2554C>A
ENST00000568219.5:c.365C>A	ENSP00000454703.2:p.Ser122Tyr
NM_024675.3:c.1250C>A , LRG_308t1:c.1250C>A	NP_078951.2:p.Ser417Tyr
XM_011545946.1:c.1256C>A	XP_011544248.1:p.Ser419Tyr
XM_011545947.1:c.1256C>A	XP_011544249.1:p.Ser419Tyr
XM_011545948.1:c.365C>A	XP_011544250.1:p.Ser122Tyr
XR_950851.1:n.2046C>A
XM_011545946.2:c.1256C>A	XP_011544248.1:p.Ser419Tyr
XM_011545947.2:c.1256C>A	XP_011544249.1:p.Ser419Tyr
XM_011545948.2:c.365C>A	XP_011544250.1:p.Ser122Tyr
XM_017023671.1:c.1256C>A	XP_016879160.1:p.Ser419Tyr
XM_017023672.2:c.1250C>A	XP_016879161.1:p.Ser417Tyr
XM_017023673.2:c.1250C>A	XP_016879162.1:p.Ser417Tyr
NM_024675.4:c.1250C>A MANE Select	NP_078951.2:p.Ser417Tyr