Canonical Allele Identifier: CA395139210

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1730484
• ClinVar RCV Id: RCV002320952
• dbSNP Id: rs2142271079
• MyVariant Identifiers: chr16:g.23619186T>C (hg19) ; chr16:g.23607865T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607865T>C , CM000678.2:g.23607865T>C	GRCh38
NC_000016.9:g.23619186T>C , CM000678.1:g.23619186T>C	GRCh37
NC_000016.8:g.23526687T>C	NCBI36
NG_007406.1:g.38493A>G , LRG_308:g.38493A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3355A>G	ENSP00000460666.3:p.Arg1119Gly
ENST00000565038.2:c.*830A>G	ENSP00000459882.2:n.*830A>G
ENST00000566069.6:c.3202-4196A>G	ENSP00000459237.2:n.3202-4196A>G
ENST00000697377.2:c.3193A>G	ENSP00000513286.2:p.Arg1065Gly
ENST00000697379.2:c.3355A>G	ENSP00000513287.2:p.Arg1119Gly
ENST00000561514.2:c.2464A>G	ENSP00000460666.2:p.Arg822Gly
ENST00000697374.1:c.2464A>G	ENSP00000513284.1:p.Arg822Gly
ENST00000697375.1:n.4696A>G
ENST00000697376.1:c.2317-4196A>G	ENSP00000513285.1:n.2317-4196A>G
ENST00000697377.1:c.2302A>G	ENSP00000513286.1:p.Arg768Gly
ENST00000697378.1:n.3869A>G
ENST00000697379.1:c.2464A>G	ENSP00000513287.1:p.Arg822Gly
ENST00000697380.1:n.2553A>G
ENST00000697381.1:n.2044A>G
ENST00000697382.1:c.*126A>G	ENSP00000513288.1:n.*126A>G
ENST00000697383.1:c.883A>G	ENSP00000513289.1:p.Arg295Gly
ENST00000261584.9:c.3349A>G MANE Select	ENSP00000261584.4:p.Arg1117Gly
ENST00000261584.8:c.3349A>G	ENSP00000261584.4:p.Arg1117Gly
ENST00000566069.5:c.117-4196A>G
ENST00000568219.5:c.2464A>G	ENSP00000454703.2:p.Arg822Gly
NM_024675.3:c.3349A>G , LRG_308t1:c.3349A>G	NP_078951.2:p.Arg1117Gly
XM_011545946.1:c.3355A>G	XP_011544248.1:p.Arg1119Gly
XM_011545947.1:c.3208-4196A>G	XP_011544249.1:n.3208-4196A>G
XM_011545948.1:c.2464A>G	XP_011544250.1:p.Arg822Gly
XR_950851.1:n.4057A>G
XM_011545946.2:c.3355A>G	XP_011544248.1:p.Arg1119Gly
XM_011545947.2:c.3208-4196A>G	XP_011544249.1:n.3208-4196A>G
XM_011545948.2:c.2464A>G	XP_011544250.1:p.Arg822Gly
XM_017023671.1:c.3120-4196A>G	XP_016879160.1:n.3120-4196A>G
XM_017023672.2:c.3114-4196A>G	XP_016879161.1:n.3114-4196A>G
XM_017023673.2:c.3202-4196A>G	XP_016879162.1:n.3202-4196A>G
NM_024675.4:c.3349A>G MANE Select	NP_078951.2:p.Arg1117Gly