Canonical Allele Identifier: CA269572

Gene: PALB2

Linked Data

• ClinVar Variation Id: 126684
• ClinVar RCV Id: RCV001030345 ; RCV002433601
• dbSNP Id: rs515726095
• MyVariant Identifiers: chr16:g.23635341G>T (hg19) ; chr16:g.23624020G>T (hg38)
• PubMed: PMID:23448497

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23624020G>T , CM000678.2:g.23624020G>T	GRCh38
NC_000016.9:g.23635341G>T , CM000678.1:g.23635341G>T	GRCh37
NC_000016.8:g.23542842G>T	NCBI36
NG_007406.1:g.22338C>A , LRG_308:g.22338C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2829C>A	ENSP00000460666.3:p.Ile943=
ENST00000565038.2:c.*304C>A	ENSP00000459882.2:n.*304C>A
ENST00000566069.6:c.2823C>A	ENSP00000459237.2:p.Ile941=
ENST00000697377.2:c.2667C>A	ENSP00000513286.2:p.Ile889=
ENST00000697379.2:c.2829C>A	ENSP00000513287.2:p.Ile943=
ENST00000561514.2:c.1938C>A	ENSP00000460666.2:p.Ile646=
ENST00000697374.1:c.1938C>A	ENSP00000513284.1:p.Ile646=
ENST00000697375.1:n.4170C>A
ENST00000697376.1:c.1938C>A	ENSP00000513285.1:p.Ile646=
ENST00000697377.1:c.1776C>A	ENSP00000513286.1:p.Ile592=
ENST00000697378.1:n.3343C>A
ENST00000697379.1:c.1938C>A	ENSP00000513287.1:p.Ile646=
ENST00000697380.1:n.2115C>A
ENST00000697381.1:n.1518C>A
ENST00000697382.1:c.1938C>A	ENSP00000513288.1:p.Ile646=
ENST00000697383.1:c.357C>A	ENSP00000513289.1:p.Ile119=
ENST00000261584.9:c.2823C>A MANE Select	ENSP00000261584.4:p.Ile941=
ENST00000261584.8:c.2823C>A	ENSP00000261584.4:p.Ile941=
ENST00000568219.5:c.1938C>A	ENSP00000454703.2:p.Ile646=
NM_024675.3:c.2823C>A , LRG_308t1:c.2823C>A	NP_078951.2:p.Ile941=
XM_011545946.1:c.2829C>A	XP_011544248.1:p.Ile943=
XM_011545947.1:c.2829C>A	XP_011544249.1:p.Ile943=
XM_011545948.1:c.1938C>A	XP_011544250.1:p.Ile646=
XR_950851.1:n.3619C>A
XM_011545946.2:c.2829C>A	XP_011544248.1:p.Ile943=
XM_011545947.2:c.2829C>A	XP_011544249.1:p.Ile943=
XM_011545948.2:c.1938C>A	XP_011544250.1:p.Ile646=
XM_017023671.1:c.2829C>A	XP_016879160.1:p.Ile943=
XM_017023672.2:c.2823C>A	XP_016879161.1:p.Ile941=
XM_017023673.2:c.2823C>A	XP_016879162.1:p.Ile941=
NM_024675.4:c.2823C>A MANE Select	NP_078951.2:p.Ile941=