Canonical Allele Identifier: CA395137901

Gene: PALB2

Linked Data

• ClinVar Variation Id: 490085
• ClinVar RCV Id: RCV001860052
• dbSNP Id: rs1308784980
• gnomAD v3: 16-23603520-G-C
• gnomAD v4: 16-23603520-G-C
• MyVariant Identifiers: chr16:g.23614841G>C (hg19) ; chr16:g.23603520G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3506C>G	ENSP00000460666.3:p.Thr1169Arg
ENST00000565038.2:c.*985C>G	ENSP00000459882.2:n.*985C>G
ENST00000566069.6:c.*135C>G	ENSP00000459237.2:n.*135C>G
ENST00000697377.2:c.3344C>G	ENSP00000513286.2:p.Thr1115Arg
ENST00000697379.2:c.3506C>G	ENSP00000513287.2:p.Thr1169Arg
ENST00000561514.2:c.2615C>G	ENSP00000460666.2:p.Thr872Arg
ENST00000697374.1:c.2615C>G	ENSP00000513284.1:p.Thr872Arg
ENST00000697375.1:n.4847C>G
ENST00000697376.1:c.*135C>G	ENSP00000513285.1:n.*135C>G
ENST00000697377.1:c.2453C>G	ENSP00000513286.1:p.Thr818Arg
ENST00000697378.1:n.4020C>G
ENST00000697379.1:c.2615C>G	ENSP00000513287.1:p.Thr872Arg
ENST00000697380.1:n.2704C>G
ENST00000697381.1:n.2195C>G
ENST00000697382.1:c.*277C>G	ENSP00000513288.1:n.*277C>G
ENST00000697383.1:c.1034C>G	ENSP00000513289.1:p.Thr345Arg
ENST00000261584.9:c.3500C>G MANE Select	ENSP00000261584.4:p.Thr1167Arg
ENST00000261584.8:c.3500C>G	ENSP00000261584.4:p.Thr1167Arg
ENST00000566069.5:c.266C>G
ENST00000568219.5:c.2615C>G	ENSP00000454703.2:p.Thr872Arg
NM_024675.3:c.3500C>G , LRG_308t1:c.3500C>G	NP_078951.2:p.Thr1167Arg
XM_011545946.1:c.3506C>G	XP_011544248.1:p.Thr1169Arg
XM_011545947.1:c.*135C>G	XP_011544249.1:n.*135C>G
XM_011545948.1:c.2615C>G	XP_011544250.1:p.Thr872Arg
XR_950851.1:n.4208C>G
XM_011545946.2:c.3506C>G	XP_011544248.1:p.Thr1169Arg
XM_011545947.2:c.*135C>G	XP_011544249.1:n.*135C>G
XM_011545948.2:c.2615C>G	XP_011544250.1:p.Thr872Arg
XM_017023671.1:c.3269C>G	XP_016879160.1:p.Thr1090Arg
XM_017023672.2:c.3263C>G	XP_016879161.1:p.Thr1088Arg
XM_017023673.2:c.*135C>G	XP_016879162.1:n.*135C>G
NM_024675.4:c.3500C>G MANE Select	NP_078951.2:p.Thr1167Arg