Canonical Allele Identifier: CA7963650

Gene: PALB2

Linked Data

• ClinVar Variation Id: 759325
• ClinVar RCV Id: RCV001483408 ; RCV002409232
• dbSNP Id: rs765063761
• ExAC: 16:23641576 T / C
• gnomAD v2: 16-23641576-T-C
• gnomAD v4: 16-23630255-T-C
• COSMIC: COSM4652698
• MyVariant Identifiers: chr16:g.23641576T>C (hg19) ; chr16:g.23630255T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630255T>C , CM000678.2:g.23630255T>C	GRCh38
NC_000016.9:g.23641576T>C , CM000678.1:g.23641576T>C	GRCh37
NC_000016.8:g.23549077T>C	NCBI36
NG_007406.1:g.16103A>G , LRG_308:g.16103A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1905A>G	ENSP00000460666.3:p.Lys635=
ENST00000565038.2:c.212-980A>G	ENSP00000459882.2:n.212-980A>G
ENST00000566069.6:c.1899A>G	ENSP00000459237.2:p.Lys633=
ENST00000697377.2:c.1905A>G	ENSP00000513286.2:p.Lys635=
ENST00000697379.2:c.1905A>G	ENSP00000513287.2:p.Lys635=
ENST00000561514.2:c.1014A>G	ENSP00000460666.2:p.Lys338=
ENST00000697374.1:c.1014A>G	ENSP00000513284.1:p.Lys338=
ENST00000697375.1:n.3246A>G
ENST00000697376.1:c.1014A>G	ENSP00000513285.1:p.Lys338=
ENST00000697377.1:c.1014A>G	ENSP00000513286.1:p.Lys338=
ENST00000697378.1:n.2419A>G
ENST00000697379.1:c.1014A>G	ENSP00000513287.1:p.Lys338=
ENST00000697380.1:n.827A>G
ENST00000697381.1:n.594A>G
ENST00000697382.1:c.1014A>G	ENSP00000513288.1:p.Lys338=
ENST00000697383.1:c.49-980A>G	ENSP00000513289.1:n.49-980A>G
ENST00000697384.1:n.2053A>G
ENST00000261584.9:c.1899A>G MANE Select	ENSP00000261584.4:p.Lys633=
ENST00000261584.8:c.1899A>G	ENSP00000261584.4:p.Lys633=
ENST00000565038.1:c.87-980A>G
ENST00000568219.5:c.1014A>G	ENSP00000454703.2:p.Lys338=
NM_024675.3:c.1899A>G , LRG_308t1:c.1899A>G	NP_078951.2:p.Lys633=
XM_011545946.1:c.1905A>G	XP_011544248.1:p.Lys635=
XM_011545947.1:c.1905A>G	XP_011544249.1:p.Lys635=
XM_011545948.1:c.1014A>G	XP_011544250.1:p.Lys338=
XR_950851.1:n.2695A>G
XM_011545946.2:c.1905A>G	XP_011544248.1:p.Lys635=
XM_011545947.2:c.1905A>G	XP_011544249.1:p.Lys635=
XM_011545948.2:c.1014A>G	XP_011544250.1:p.Lys338=
XM_017023671.1:c.1905A>G	XP_016879160.1:p.Lys635=
XM_017023672.2:c.1899A>G	XP_016879161.1:p.Lys633=
XM_017023673.2:c.1899A>G	XP_016879162.1:p.Lys633=
NM_024675.4:c.1899A>G MANE Select	NP_078951.2:p.Lys633=