Canonical Allele Identifier: CA10579920

Gene: PALB2

Linked Data

• ClinVar Variation Id: 232594
• ClinVar RCV Id: RCV000217139 ; RCV000533846 ; RCV002271470 ; RCV002277578 ; RCV003315422
• dbSNP Id: rs876659859
• gnomAD v4: 16-23607864-C-T
• MyVariant Identifiers: chr16:g.23619185C>T (hg19) ; chr16:g.23607864C>T (hg38)
• PubMed: PMID:26564480
• ERepo: CA10579920/MONDO:0016419/020

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607864C>T , CM000678.2:g.23607864C>T	GRCh38
NC_000016.9:g.23619185C>T , CM000678.1:g.23619185C>T	GRCh37
NC_000016.8:g.23526686C>T	NCBI36
NG_007406.1:g.38494G>A , LRG_308:g.38494G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3356G>A	ENSP00000460666.3:p.Arg1119Lys
ENST00000565038.2:c.*831G>A	ENSP00000459882.2:n.*831G>A
ENST00000566069.6:c.3202-4195G>A	ENSP00000459237.2:n.3202-4195G>A
ENST00000697377.2:c.3194G>A	ENSP00000513286.2:p.Arg1065Lys
ENST00000697379.2:c.3356G>A	ENSP00000513287.2:p.Arg1119Lys
ENST00000561514.2:c.2465G>A	ENSP00000460666.2:p.Arg822Lys
ENST00000697374.1:c.2465G>A	ENSP00000513284.1:p.Arg822Lys
ENST00000697375.1:n.4697G>A
ENST00000697376.1:c.2317-4195G>A	ENSP00000513285.1:n.2317-4195G>A
ENST00000697377.1:c.2303G>A	ENSP00000513286.1:p.Arg768Lys
ENST00000697378.1:n.3870G>A
ENST00000697379.1:c.2465G>A	ENSP00000513287.1:p.Arg822Lys
ENST00000697380.1:n.2554G>A
ENST00000697381.1:n.2045G>A
ENST00000697382.1:c.*127G>A	ENSP00000513288.1:n.*127G>A
ENST00000697383.1:c.884G>A	ENSP00000513289.1:p.Arg295Lys
ENST00000261584.9:c.3350G>A MANE Select	ENSP00000261584.4:p.Arg1117Lys
ENST00000261584.8:c.3350G>A	ENSP00000261584.4:p.Arg1117Lys
ENST00000566069.5:c.117-4195G>A
ENST00000568219.5:c.2465G>A	ENSP00000454703.2:p.Arg822Lys
NM_024675.3:c.3350G>A , LRG_308t1:c.3350G>A	NP_078951.2:p.Arg1117Lys
XM_011545946.1:c.3356G>A	XP_011544248.1:p.Arg1119Lys
XM_011545947.1:c.3208-4195G>A	XP_011544249.1:n.3208-4195G>A
XM_011545948.1:c.2465G>A	XP_011544250.1:p.Arg822Lys
XR_950851.1:n.4058G>A
XM_011545946.2:c.3356G>A	XP_011544248.1:p.Arg1119Lys
XM_011545947.2:c.3208-4195G>A	XP_011544249.1:n.3208-4195G>A
XM_011545948.2:c.2465G>A	XP_011544250.1:p.Arg822Lys
XM_017023671.1:c.3120-4195G>A	XP_016879160.1:n.3120-4195G>A
XM_017023672.2:c.3114-4195G>A	XP_016879161.1:n.3114-4195G>A
XM_017023673.2:c.3202-4195G>A	XP_016879162.1:n.3202-4195G>A
NM_024675.4:c.3350G>A MANE Select	NP_078951.2:p.Arg1117Lys