Canonical Allele Identifier: CA198420

Gene: PALB2

Linked Data

• ClinVar Variation Id: 187727
• ClinVar RCV Id: RCV000167480 ; RCV000934763 ; RCV001775654
• dbSNP Id: rs753307725
• ExAC: 16:23625417 G / A
• gnomAD v2: 16-23625417-G-A
• gnomAD v4: 16-23614096-G-A
• MyVariant Identifiers: chr16:g.23625417G>A (hg19) ; chr16:g.23614096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23614096G>A , CM000678.2:g.23614096G>A	GRCh38
NC_000016.9:g.23625417G>A , CM000678.1:g.23625417G>A	GRCh37
NC_000016.8:g.23532918G>A	NCBI36
NG_007406.1:g.32262C>T , LRG_308:g.32262C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3120-5C>T	ENSP00000460666.3:n.3120-5C>T
ENST00000565038.2:c.*595-5C>T	ENSP00000459882.2:n.*595-5C>T
ENST00000566069.6:c.3114-5C>T	ENSP00000459237.2:n.3114-5C>T
ENST00000697377.2:c.2958-5C>T	ENSP00000513286.2:n.2958-5C>T
ENST00000697379.2:c.3120-5C>T	ENSP00000513287.2:n.3120-5C>T
ENST00000561514.2:c.2229-5C>T	ENSP00000460666.2:n.2229-5C>T
ENST00000697374.1:c.2229-5C>T	ENSP00000513284.1:n.2229-5C>T
ENST00000697375.1:n.4461-5C>T
ENST00000697376.1:c.2229-5C>T	ENSP00000513285.1:n.2229-5C>T
ENST00000697377.1:c.2067-5C>T	ENSP00000513286.1:n.2067-5C>T
ENST00000697378.1:n.3634-5C>T
ENST00000697379.1:c.2229-5C>T	ENSP00000513287.1:n.2229-5C>T
ENST00000697380.1:n.2406-6084C>T
ENST00000697381.1:n.1809-5C>T
ENST00000697382.1:c.2229-6084C>T	ENSP00000513288.1:n.2229-6084C>T
ENST00000697383.1:c.648-5C>T	ENSP00000513289.1:n.648-5C>T
ENST00000261584.9:c.3114-5C>T MANE Select	ENSP00000261584.4:n.3114-5C>T
ENST00000261584.8:c.3114-5C>T	ENSP00000261584.4:n.3114-5C>T
ENST00000566069.5:c.29-5C>T
ENST00000568219.5:c.2229-5C>T	ENSP00000454703.2:n.2229-5C>T
NM_024675.3:c.3114-5C>T , LRG_308t1:c.3114-5C>T	NP_078951.2:n.3114-5C>T
XM_011545946.1:c.3120-5C>T	XP_011544248.1:n.3120-5C>T
XM_011545947.1:c.3120-5C>T	XP_011544249.1:n.3120-5C>T
XM_011545948.1:c.2229-5C>T	XP_011544250.1:n.2229-5C>T
XR_950851.1:n.3910-6084C>T
XM_011545946.2:c.3120-5C>T	XP_011544248.1:n.3120-5C>T
XM_011545947.2:c.3120-5C>T	XP_011544249.1:n.3120-5C>T
XM_011545948.2:c.2229-5C>T	XP_011544250.1:n.2229-5C>T
XM_017023671.1:c.3119+7266C>T	XP_016879160.1:n.3119+7266C>T
XM_017023672.2:c.3113+7266C>T	XP_016879161.1:n.3113+7266C>T
XM_017023673.2:c.3114-5C>T	XP_016879162.1:n.3114-5C>T
NM_024675.4:c.3114-5C>T MANE Select	NP_078951.2:n.3114-5C>T