Canonical Allele Identifier: CA197685

Gene: PALB2

Linked Data

• ClinVar Variation Id: 126627
• ClinVar RCV Id: RCV000114501 ; RCV000167184 ; RCV000427468 ; RCV002477268 ; RCV002505026 ; RCV003315613 ; RCV004542813
• dbSNP Id: rs141707455
• ExAC: 16:23641540 C / T
• gnomAD v2: 16-23641540-C-T
• gnomAD v3: 16-23630219-C-T
• gnomAD v4: 16-23630219-C-T
• MyVariant Identifiers: chr16:g.23641540C>T (hg19) ; chr16:g.23630219C>T (hg38)
• PubMed: PMID:21618343 ; PMID:23448497

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630219C>T , CM000678.2:g.23630219C>T	GRCh38
NC_000016.9:g.23641540C>T , CM000678.1:g.23641540C>T	GRCh37
NC_000016.8:g.23549041C>T	NCBI36
NG_007406.1:g.16139G>A , LRG_308:g.16139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1941G>A	ENSP00000460666.3:p.Glu647=
ENST00000565038.2:c.212-944G>A	ENSP00000459882.2:n.212-944G>A
ENST00000566069.6:c.1935G>A	ENSP00000459237.2:p.Glu645=
ENST00000697377.2:c.1941G>A	ENSP00000513286.2:p.Glu647=
ENST00000697379.2:c.1941G>A	ENSP00000513287.2:p.Glu647=
ENST00000561514.2:c.1050G>A	ENSP00000460666.2:p.Glu350=
ENST00000697374.1:c.1050G>A	ENSP00000513284.1:p.Glu350=
ENST00000697375.1:n.3282G>A
ENST00000697376.1:c.1050G>A	ENSP00000513285.1:p.Glu350=
ENST00000697377.1:c.1050G>A	ENSP00000513286.1:p.Glu350=
ENST00000697378.1:n.2455G>A
ENST00000697379.1:c.1050G>A	ENSP00000513287.1:p.Glu350=
ENST00000697380.1:n.863G>A
ENST00000697381.1:n.630G>A
ENST00000697382.1:c.1050G>A	ENSP00000513288.1:p.Glu350=
ENST00000697383.1:c.49-944G>A	ENSP00000513289.1:n.49-944G>A
ENST00000697384.1:n.2089G>A
ENST00000261584.9:c.1935G>A MANE Select	ENSP00000261584.4:p.Glu645=
ENST00000261584.8:c.1935G>A	ENSP00000261584.4:p.Glu645=
ENST00000565038.1:c.87-944G>A
ENST00000568219.5:c.1050G>A	ENSP00000454703.2:p.Glu350=
NM_024675.3:c.1935G>A , LRG_308t1:c.1935G>A	NP_078951.2:p.Glu645=
XM_011545946.1:c.1941G>A	XP_011544248.1:p.Glu647=
XM_011545947.1:c.1941G>A	XP_011544249.1:p.Glu647=
XM_011545948.1:c.1050G>A	XP_011544250.1:p.Glu350=
XR_950851.1:n.2731G>A
XM_011545946.2:c.1941G>A	XP_011544248.1:p.Glu647=
XM_011545947.2:c.1941G>A	XP_011544249.1:p.Glu647=
XM_011545948.2:c.1050G>A	XP_011544250.1:p.Glu350=
XM_017023671.1:c.1941G>A	XP_016879160.1:p.Glu647=
XM_017023672.2:c.1935G>A	XP_016879161.1:p.Glu645=
XM_017023673.2:c.1935G>A	XP_016879162.1:p.Glu645=
NM_024675.4:c.1935G>A MANE Select	NP_078951.2:p.Glu645=