Canonical Allele Identifier: CA395138761

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1421665
• ClinVar RCV Id: RCV001923819
• dbSNP Id: rs1240552147
• gnomAD v3: 16-23636224-T-G
• gnomAD v4: 16-23636224-T-G
• MyVariant Identifiers: chr16:g.23647545T>G (hg19) ; chr16:g.23636224T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636224T>G , CM000678.2:g.23636224T>G	GRCh38
NC_000016.9:g.23647545T>G , CM000678.1:g.23647545T>G	GRCh37
NC_000016.8:g.23555046T>G	NCBI36
NG_007406.1:g.10134A>C , LRG_308:g.10134A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.328A>C	ENSP00000460666.3:p.Asn110His
ENST00000565038.2:c.211+1626A>C	ENSP00000459882.2:n.211+1626A>C
ENST00000566069.6:c.322A>C	ENSP00000459237.2:p.Asn108His
ENST00000697377.2:c.328A>C	ENSP00000513286.2:p.Asn110His
ENST00000697379.2:c.328A>C	ENSP00000513287.2:p.Asn110His
ENST00000561514.2:c.-564A>C	ENSP00000460666.2:n.-564A>C
ENST00000697374.1:c.-564A>C	ENSP00000513284.1:n.-564A>C
ENST00000697375.1:n.1669A>C
ENST00000697376.1:c.-564A>C	ENSP00000513285.1:n.-564A>C
ENST00000697377.1:c.-564A>C	ENSP00000513286.1:n.-564A>C
ENST00000697378.1:n.842A>C
ENST00000697379.1:c.-564A>C	ENSP00000513287.1:n.-564A>C
ENST00000697382.1:c.-564A>C	ENSP00000513288.1:n.-564A>C
ENST00000697383.1:c.48+4886A>C	ENSP00000513289.1:n.48+4886A>C
ENST00000697384.1:n.476A>C
ENST00000261584.9:c.322A>C MANE Select	ENSP00000261584.4:p.Asn108His
ENST00000261584.8:c.322A>C	ENSP00000261584.4:p.Asn108His
ENST00000565038.1:c.86+1626A>C
ENST00000567003.1:n.600A>C
ENST00000568219.5:c.-564A>C	ENSP00000454703.2:n.-564A>C
NM_024675.3:c.322A>C , LRG_308t1:c.322A>C	NP_078951.2:p.Asn108His
XM_011545946.1:c.328A>C	XP_011544248.1:p.Asn110His
XM_011545947.1:c.328A>C	XP_011544249.1:p.Asn110His
XM_011545948.1:c.-564A>C	XP_011544250.1:n.-564A>C
XR_950851.1:n.1118A>C
XM_011545946.2:c.328A>C	XP_011544248.1:p.Asn110His
XM_011545947.2:c.328A>C	XP_011544249.1:p.Asn110His
XM_011545948.2:c.-564A>C	XP_011544250.1:n.-564A>C
XM_017023671.1:c.328A>C	XP_016879160.1:p.Asn110His
XM_017023672.2:c.322A>C	XP_016879161.1:p.Asn108His
XM_017023673.2:c.322A>C	XP_016879162.1:p.Asn108His
NM_024675.4:c.322A>C MANE Select	NP_078951.2:p.Asn108His