Canonical Allele Identifier: CA395139259

Gene: PALB2

Linked Data

• ClinVar Variation Id: 629280
• ClinVar RCV Id: RCV000773981
• dbSNP Id: rs1567206747
• MyVariant Identifiers: chr16:g.23619192C>G (hg19) ; chr16:g.23607871C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607871C>G , CM000678.2:g.23607871C>G	GRCh38
NC_000016.9:g.23619192C>G , CM000678.1:g.23619192C>G	GRCh37
NC_000016.8:g.23526693C>G	NCBI36
NG_007406.1:g.38487G>C , LRG_308:g.38487G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3349G>C	ENSP00000460666.3:p.Ala1117Pro
ENST00000565038.2:c.*824G>C	ENSP00000459882.2:n.*824G>C
ENST00000566069.6:c.3202-4202G>C	ENSP00000459237.2:n.3202-4202G>C
ENST00000697377.2:c.3187G>C	ENSP00000513286.2:p.Ala1063Pro
ENST00000697379.2:c.3349G>C	ENSP00000513287.2:p.Ala1117Pro
ENST00000561514.2:c.2458G>C	ENSP00000460666.2:p.Ala820Pro
ENST00000697374.1:c.2458G>C	ENSP00000513284.1:p.Ala820Pro
ENST00000697375.1:n.4690G>C
ENST00000697376.1:c.2317-4202G>C	ENSP00000513285.1:n.2317-4202G>C
ENST00000697377.1:c.2296G>C	ENSP00000513286.1:p.Ala766Pro
ENST00000697378.1:n.3863G>C
ENST00000697379.1:c.2458G>C	ENSP00000513287.1:p.Ala820Pro
ENST00000697380.1:n.2547G>C
ENST00000697381.1:n.2038G>C
ENST00000697382.1:c.*120G>C	ENSP00000513288.1:n.*120G>C
ENST00000697383.1:c.877G>C	ENSP00000513289.1:p.Ala293Pro
ENST00000261584.9:c.3343G>C MANE Select	ENSP00000261584.4:p.Ala1115Pro
ENST00000261584.8:c.3343G>C	ENSP00000261584.4:p.Ala1115Pro
ENST00000566069.5:c.117-4202G>C
ENST00000568219.5:c.2458G>C	ENSP00000454703.2:p.Ala820Pro
NM_024675.3:c.3343G>C , LRG_308t1:c.3343G>C	NP_078951.2:p.Ala1115Pro
XM_011545946.1:c.3349G>C	XP_011544248.1:p.Ala1117Pro
XM_011545947.1:c.3208-4202G>C	XP_011544249.1:n.3208-4202G>C
XM_011545948.1:c.2458G>C	XP_011544250.1:p.Ala820Pro
XR_950851.1:n.4051G>C
XM_011545946.2:c.3349G>C	XP_011544248.1:p.Ala1117Pro
XM_011545947.2:c.3208-4202G>C	XP_011544249.1:n.3208-4202G>C
XM_011545948.2:c.2458G>C	XP_011544250.1:p.Ala820Pro
XM_017023671.1:c.3120-4202G>C	XP_016879160.1:n.3120-4202G>C
XM_017023672.2:c.3114-4202G>C	XP_016879161.1:n.3114-4202G>C
XM_017023673.2:c.3202-4202G>C	XP_016879162.1:n.3202-4202G>C
NM_024675.4:c.3343G>C MANE Select	NP_078951.2:p.Ala1115Pro