Canonical Allele Identifier: CA16615057

Gene: PALB2

Linked Data

• ClinVar Variation Id: 415978
• ClinVar RCV Id: RCV000475777 ; RCV000579709
• dbSNP Id: rs1060504704
• MyVariant Identifiers: chr16:g.23614795T>C (hg19) ; chr16:g.23603474T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603474T>C , CM000678.2:g.23603474T>C	GRCh38
NC_000016.9:g.23614795T>C , CM000678.1:g.23614795T>C	GRCh37
NC_000016.8:g.23522296T>C	NCBI36
NG_007406.1:g.42884A>G , LRG_308:g.42884A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3552A>G	ENSP00000460666.3:p.Val1184=
ENST00000565038.2:c.*1031A>G	ENSP00000459882.2:n.*1031A>G
ENST00000566069.6:c.*181A>G	ENSP00000459237.2:n.*181A>G
ENST00000697377.2:c.3390A>G	ENSP00000513286.2:p.Val1130=
ENST00000697379.2:c.3552A>G	ENSP00000513287.2:p.Val1184=
ENST00000561514.2:c.2661A>G	ENSP00000460666.2:p.Val887=
ENST00000697374.1:c.2661A>G	ENSP00000513284.1:p.Val887=
ENST00000697375.1:n.4893A>G
ENST00000697376.1:c.*181A>G	ENSP00000513285.1:n.*181A>G
ENST00000697377.1:c.2499A>G	ENSP00000513286.1:p.Val833=
ENST00000697378.1:n.4066A>G
ENST00000697379.1:c.2661A>G	ENSP00000513287.1:p.Val887=
ENST00000697380.1:n.2750A>G
ENST00000697381.1:n.2241A>G
ENST00000697382.1:c.*323A>G	ENSP00000513288.1:n.*323A>G
ENST00000697383.1:c.1080A>G	ENSP00000513289.1:p.Val360=
ENST00000261584.9:c.3546A>G MANE Select	ENSP00000261584.4:p.Val1182=
ENST00000261584.8:c.3546A>G	ENSP00000261584.4:p.Val1182=
ENST00000566069.5:c.312A>G
ENST00000568219.5:c.2661A>G	ENSP00000454703.2:p.Val887=
NM_024675.3:c.3546A>G , LRG_308t1:c.3546A>G	NP_078951.2:p.Val1182=
XM_011545946.1:c.3552A>G	XP_011544248.1:p.Val1184=
XM_011545947.1:c.*181A>G	XP_011544249.1:n.*181A>G
XM_011545948.1:c.2661A>G	XP_011544250.1:p.Val887=
XR_950851.1:n.4254A>G
XM_011545946.2:c.3552A>G	XP_011544248.1:p.Val1184=
XM_011545947.2:c.*181A>G	XP_011544249.1:n.*181A>G
XM_011545948.2:c.2661A>G	XP_011544250.1:p.Val887=
XM_017023671.1:c.3315A>G	XP_016879160.1:p.Val1105=
XM_017023672.2:c.3309A>G	XP_016879161.1:p.Val1103=
XM_017023673.2:c.*181A>G	XP_016879162.1:n.*181A>G
NM_024675.4:c.3546A>G MANE Select	NP_078951.2:p.Val1182=