Canonical Allele Identifier: CA395127021

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1483842
• ClinVar RCV Id: RCV002028142 ; RCV002423193
• dbSNP Id: rs1064793726
• gnomAD v4: 16-23630133-T-G
• MyVariant Identifiers: chr16:g.23641454T>G (hg19) ; chr16:g.23630133T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630133T>G , CM000678.2:g.23630133T>G	GRCh38
NC_000016.9:g.23641454T>G , CM000678.1:g.23641454T>G	GRCh37
NC_000016.8:g.23548955T>G	NCBI36
NG_007406.1:g.16225A>C , LRG_308:g.16225A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2027A>C	ENSP00000460666.3:p.Asp676Ala
ENST00000565038.2:c.212-858A>C	ENSP00000459882.2:n.212-858A>C
ENST00000566069.6:c.2021A>C	ENSP00000459237.2:p.Asp674Ala
ENST00000697377.2:c.2027A>C	ENSP00000513286.2:p.Asp676Ala
ENST00000697379.2:c.2027A>C	ENSP00000513287.2:p.Asp676Ala
ENST00000561514.2:c.1136A>C	ENSP00000460666.2:p.Asp379Ala
ENST00000697374.1:c.1136A>C	ENSP00000513284.1:p.Asp379Ala
ENST00000697375.1:n.3368A>C
ENST00000697376.1:c.1136A>C	ENSP00000513285.1:p.Asp379Ala
ENST00000697377.1:c.1136A>C	ENSP00000513286.1:p.Asp379Ala
ENST00000697378.1:n.2541A>C
ENST00000697379.1:c.1136A>C	ENSP00000513287.1:p.Asp379Ala
ENST00000697380.1:n.949A>C
ENST00000697381.1:n.716A>C
ENST00000697382.1:c.1136A>C	ENSP00000513288.1:p.Asp379Ala
ENST00000697383.1:c.49-858A>C	ENSP00000513289.1:n.49-858A>C
ENST00000697384.1:n.2175A>C
ENST00000261584.9:c.2021A>C MANE Select	ENSP00000261584.4:p.Asp674Ala
ENST00000261584.8:c.2021A>C	ENSP00000261584.4:p.Asp674Ala
ENST00000565038.1:c.87-858A>C
ENST00000568219.5:c.1136A>C	ENSP00000454703.2:p.Asp379Ala
NM_024675.3:c.2021A>C , LRG_308t1:c.2021A>C	NP_078951.2:p.Asp674Ala
XM_011545946.1:c.2027A>C	XP_011544248.1:p.Asp676Ala
XM_011545947.1:c.2027A>C	XP_011544249.1:p.Asp676Ala
XM_011545948.1:c.1136A>C	XP_011544250.1:p.Asp379Ala
XR_950851.1:n.2817A>C
XM_011545946.2:c.2027A>C	XP_011544248.1:p.Asp676Ala
XM_011545947.2:c.2027A>C	XP_011544249.1:p.Asp676Ala
XM_011545948.2:c.1136A>C	XP_011544250.1:p.Asp379Ala
XM_017023671.1:c.2027A>C	XP_016879160.1:p.Asp676Ala
XM_017023672.2:c.2021A>C	XP_016879161.1:p.Asp674Ala
XM_017023673.2:c.2021A>C	XP_016879162.1:p.Asp674Ala
NM_024675.4:c.2021A>C MANE Select	NP_078951.2:p.Asp674Ala