Canonical Allele Identifier: CA494173585

Gene: PALB2

Linked Data

• ClinVar Variation Id: 853255
• ClinVar RCV Id: RCV001058034
• dbSNP Id: rs876659978
• MyVariant Identifiers: chr16:g.23614870T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603549T>C , CM000678.2:g.23603549T>C	GRCh38
NC_000016.9:g.23614870T>C , CM000678.1:g.23614870T>C	GRCh37
NC_000016.8:g.23522371T>C	NCBI36
NG_007406.1:g.42809A>G , LRG_308:g.42809A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3477A>G	ENSP00000460666.3:p.Gln1159=
ENST00000565038.2:c.*956A>G	ENSP00000459882.2:n.*956A>G
ENST00000566069.6:c.*106A>G	ENSP00000459237.2:n.*106A>G
ENST00000697377.2:c.3315A>G	ENSP00000513286.2:p.Gln1105=
ENST00000697379.2:c.3477A>G	ENSP00000513287.2:p.Gln1159=
ENST00000561514.2:c.2586A>G	ENSP00000460666.2:p.Gln862=
ENST00000697374.1:c.2586A>G	ENSP00000513284.1:p.Gln862=
ENST00000697375.1:n.4818A>G
ENST00000697376.1:c.*106A>G	ENSP00000513285.1:n.*106A>G
ENST00000697377.1:c.2424A>G	ENSP00000513286.1:p.Gln808=
ENST00000697378.1:n.3991A>G
ENST00000697379.1:c.2586A>G	ENSP00000513287.1:p.Gln862=
ENST00000697380.1:n.2675A>G
ENST00000697381.1:n.2166A>G
ENST00000697382.1:c.*248A>G	ENSP00000513288.1:n.*248A>G
ENST00000697383.1:c.1005A>G	ENSP00000513289.1:p.Gln335=
ENST00000261584.9:c.3471A>G MANE Select	ENSP00000261584.4:p.Gln1157=
ENST00000261584.8:c.3471A>G	ENSP00000261584.4:p.Gln1157=
ENST00000566069.5:c.237A>G
ENST00000568219.5:c.2586A>G	ENSP00000454703.2:p.Gln862=
NM_024675.3:c.3471A>G , LRG_308t1:c.3471A>G	NP_078951.2:p.Gln1157=
XM_011545946.1:c.3477A>G	XP_011544248.1:p.Gln1159=
XM_011545947.1:c.*106A>G	XP_011544249.1:n.*106A>G
XM_011545948.1:c.2586A>G	XP_011544250.1:p.Gln862=
XR_950851.1:n.4179A>G
XM_011545946.2:c.3477A>G	XP_011544248.1:p.Gln1159=
XM_011545947.2:c.*106A>G	XP_011544249.1:n.*106A>G
XM_011545948.2:c.2586A>G	XP_011544250.1:p.Gln862=
XM_017023671.1:c.3240A>G	XP_016879160.1:p.Gln1080=
XM_017023672.2:c.3234A>G	XP_016879161.1:p.Gln1078=
XM_017023673.2:c.*106A>G	XP_016879162.1:n.*106A>G
NM_024675.4:c.3471A>G MANE Select	NP_078951.2:p.Gln1157=