Canonical Allele Identifier: CA168760

Gene: PALB2

Linked Data

• ClinVar Variation Id: 142586
• ClinVar RCV Id: RCV000131789 ; RCV000526519
• dbSNP Id: rs587782566
• gnomAD v2: 16-23619180-C-T
• gnomAD v3: 16-23607859-C-T
• gnomAD v4: 16-23607859-C-T
• MyVariant Identifiers: chr16:g.23619180C>T (hg19) ; chr16:g.23607859C>T (hg38)
• PubMed: PMID:17200671

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607859C>T , CM000678.2:g.23607859C>T	GRCh38
NC_000016.9:g.23619180C>T , CM000678.1:g.23619180C>T	GRCh37
NC_000016.8:g.23526681C>T	NCBI36
NG_007406.1:g.38499G>A , LRG_308:g.38499G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3356+5G>A	ENSP00000460666.3:n.3356+5G>A
ENST00000565038.2:c.*835+1G>A	ENSP00000459882.2:n.*835+1G>A
ENST00000566069.6:c.3202-4190G>A	ENSP00000459237.2:n.3202-4190G>A
ENST00000697377.2:c.3194+5G>A	ENSP00000513286.2:n.3194+5G>A
ENST00000697379.2:c.3356+5G>A	ENSP00000513287.2:n.3356+5G>A
ENST00000561514.2:c.2465+5G>A	ENSP00000460666.2:n.2465+5G>A
ENST00000697374.1:c.2465+5G>A	ENSP00000513284.1:n.2465+5G>A
ENST00000697375.1:n.4697+5G>A
ENST00000697376.1:c.2317-4190G>A	ENSP00000513285.1:n.2317-4190G>A
ENST00000697377.1:c.2303+5G>A	ENSP00000513286.1:n.2303+5G>A
ENST00000697378.1:n.3870+5G>A
ENST00000697379.1:c.2465+5G>A	ENSP00000513287.1:n.2465+5G>A
ENST00000697380.1:n.2554+5G>A
ENST00000697381.1:n.2045+5G>A
ENST00000697382.1:c.*127+5G>A	ENSP00000513288.1:n.*127+5G>A
ENST00000697383.1:c.884+5G>A	ENSP00000513289.1:n.884+5G>A
ENST00000261584.9:c.3350+5G>A MANE Select	ENSP00000261584.4:n.3350+5G>A
ENST00000261584.8:c.3350+5G>A	ENSP00000261584.4:n.3350+5G>A
ENST00000566069.5:c.117-4190G>A
ENST00000568219.5:c.2465+5G>A	ENSP00000454703.2:n.2465+5G>A
NM_024675.3:c.3350+5G>A , LRG_308t1:c.3350+5G>A	NP_078951.2:n.3350+5G>A
XM_011545946.1:c.3356+5G>A	XP_011544248.1:n.3356+5G>A
XM_011545947.1:c.3208-4190G>A	XP_011544249.1:n.3208-4190G>A
XM_011545948.1:c.2465+5G>A	XP_011544250.1:n.2465+5G>A
XR_950851.1:n.4058+5G>A
XM_011545946.2:c.3356+5G>A	XP_011544248.1:n.3356+5G>A
XM_011545947.2:c.3208-4190G>A	XP_011544249.1:n.3208-4190G>A
XM_011545948.2:c.2465+5G>A	XP_011544250.1:n.2465+5G>A
XM_017023671.1:c.3120-4190G>A	XP_016879160.1:n.3120-4190G>A
XM_017023672.2:c.3114-4190G>A	XP_016879161.1:n.3114-4190G>A
XM_017023673.2:c.3202-4190G>A	XP_016879162.1:n.3202-4190G>A
NM_024675.4:c.3350+5G>A MANE Select	NP_078951.2:n.3350+5G>A