Canonical Allele Identifier: CA395137900

Gene: PALB2

Linked Data

• ClinVar Variation Id: 482010
• ClinVar RCV Id: RCV000571848 ; RCV000635737 ; RCV000756459
• dbSNP Id: rs1308784980
• gnomAD v2: 16-23614841-G-A
• gnomAD v4: 16-23603520-G-A
• MyVariant Identifiers: chr16:g.23614841G>A (hg19) ; chr16:g.23603520G>A (hg38)
• PubMed: PMID:25186627

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603520G>A , CM000678.2:g.23603520G>A	GRCh38
NC_000016.9:g.23614841G>A , CM000678.1:g.23614841G>A	GRCh37
NC_000016.8:g.23522342G>A	NCBI36
NG_007406.1:g.42838C>T , LRG_308:g.42838C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3506C>T	ENSP00000460666.3:p.Thr1169Ile
ENST00000565038.2:c.*985C>T	ENSP00000459882.2:n.*985C>T
ENST00000566069.6:c.*135C>T	ENSP00000459237.2:n.*135C>T
ENST00000697377.2:c.3344C>T	ENSP00000513286.2:p.Thr1115Ile
ENST00000697379.2:c.3506C>T	ENSP00000513287.2:p.Thr1169Ile
ENST00000561514.2:c.2615C>T	ENSP00000460666.2:p.Thr872Ile
ENST00000697374.1:c.2615C>T	ENSP00000513284.1:p.Thr872Ile
ENST00000697375.1:n.4847C>T
ENST00000697376.1:c.*135C>T	ENSP00000513285.1:n.*135C>T
ENST00000697377.1:c.2453C>T	ENSP00000513286.1:p.Thr818Ile
ENST00000697378.1:n.4020C>T
ENST00000697379.1:c.2615C>T	ENSP00000513287.1:p.Thr872Ile
ENST00000697380.1:n.2704C>T
ENST00000697381.1:n.2195C>T
ENST00000697382.1:c.*277C>T	ENSP00000513288.1:n.*277C>T
ENST00000697383.1:c.1034C>T	ENSP00000513289.1:p.Thr345Ile
ENST00000261584.9:c.3500C>T MANE Select	ENSP00000261584.4:p.Thr1167Ile
ENST00000261584.8:c.3500C>T	ENSP00000261584.4:p.Thr1167Ile
ENST00000566069.5:c.266C>T
ENST00000568219.5:c.2615C>T	ENSP00000454703.2:p.Thr872Ile
NM_024675.3:c.3500C>T , LRG_308t1:c.3500C>T	NP_078951.2:p.Thr1167Ile
XM_011545946.1:c.3506C>T	XP_011544248.1:p.Thr1169Ile
XM_011545947.1:c.*135C>T	XP_011544249.1:n.*135C>T
XM_011545948.1:c.2615C>T	XP_011544250.1:p.Thr872Ile
XR_950851.1:n.4208C>T
XM_011545946.2:c.3506C>T	XP_011544248.1:p.Thr1169Ile
XM_011545947.2:c.*135C>T	XP_011544249.1:n.*135C>T
XM_011545948.2:c.2615C>T	XP_011544250.1:p.Thr872Ile
XM_017023671.1:c.3269C>T	XP_016879160.1:p.Thr1090Ile
XM_017023672.2:c.3263C>T	XP_016879161.1:p.Thr1088Ile
XM_017023673.2:c.*135C>T	XP_016879162.1:n.*135C>T
NM_024675.4:c.3500C>T MANE Select	NP_078951.2:p.Thr1167Ile