Canonical Allele Identifier: CA10579992

Gene: PALB2

Linked Data

• ClinVar Variation Id: 231263
• ClinVar RCV Id: RCV000221530 ; RCV003133189
• dbSNP Id: rs876659058
• gnomAD v4: 16-23630236-A-T
• MyVariant Identifiers: chr16:g.23641557A>T (hg19) ; chr16:g.23630236A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630236A>T , CM000678.2:g.23630236A>T	GRCh38
NC_000016.9:g.23641557A>T , CM000678.1:g.23641557A>T	GRCh37
NC_000016.8:g.23549058A>T	NCBI36
NG_007406.1:g.16122T>A , LRG_308:g.16122T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1924T>A	ENSP00000460666.3:p.Ser642Thr
ENST00000565038.2:c.212-961T>A	ENSP00000459882.2:n.212-961T>A
ENST00000566069.6:c.1918T>A	ENSP00000459237.2:p.Ser640Thr
ENST00000697377.2:c.1924T>A	ENSP00000513286.2:p.Ser642Thr
ENST00000697379.2:c.1924T>A	ENSP00000513287.2:p.Ser642Thr
ENST00000561514.2:c.1033T>A	ENSP00000460666.2:p.Ser345Thr
ENST00000697374.1:c.1033T>A	ENSP00000513284.1:p.Ser345Thr
ENST00000697375.1:n.3265T>A
ENST00000697376.1:c.1033T>A	ENSP00000513285.1:p.Ser345Thr
ENST00000697377.1:c.1033T>A	ENSP00000513286.1:p.Ser345Thr
ENST00000697378.1:n.2438T>A
ENST00000697379.1:c.1033T>A	ENSP00000513287.1:p.Ser345Thr
ENST00000697380.1:n.846T>A
ENST00000697381.1:n.613T>A
ENST00000697382.1:c.1033T>A	ENSP00000513288.1:p.Ser345Thr
ENST00000697383.1:c.49-961T>A	ENSP00000513289.1:n.49-961T>A
ENST00000697384.1:n.2072T>A
ENST00000261584.9:c.1918T>A MANE Select	ENSP00000261584.4:p.Ser640Thr
ENST00000261584.8:c.1918T>A	ENSP00000261584.4:p.Ser640Thr
ENST00000565038.1:c.87-961T>A
ENST00000568219.5:c.1033T>A	ENSP00000454703.2:p.Ser345Thr
NM_024675.3:c.1918T>A , LRG_308t1:c.1918T>A	NP_078951.2:p.Ser640Thr
XM_011545946.1:c.1924T>A	XP_011544248.1:p.Ser642Thr
XM_011545947.1:c.1924T>A	XP_011544249.1:p.Ser642Thr
XM_011545948.1:c.1033T>A	XP_011544250.1:p.Ser345Thr
XR_950851.1:n.2714T>A
XM_011545946.2:c.1924T>A	XP_011544248.1:p.Ser642Thr
XM_011545947.2:c.1924T>A	XP_011544249.1:p.Ser642Thr
XM_011545948.2:c.1033T>A	XP_011544250.1:p.Ser345Thr
XM_017023671.1:c.1924T>A	XP_016879160.1:p.Ser642Thr
XM_017023672.2:c.1918T>A	XP_016879161.1:p.Ser640Thr
XM_017023673.2:c.1918T>A	XP_016879162.1:p.Ser640Thr
NM_024675.4:c.1918T>A MANE Select	NP_078951.2:p.Ser640Thr