Canonical Allele Identifier: CA395128480

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1778085
• ClinVar RCV Id: RCV002406135
• dbSNP Id: rs2142391318
• MyVariant Identifiers: chr16:g.23641786C>A (hg19) ; chr16:g.23630465C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630465C>A , CM000678.2:g.23630465C>A	GRCh38
NC_000016.9:g.23641786C>A , CM000678.1:g.23641786C>A	GRCh37
NC_000016.8:g.23549287C>A	NCBI36
NG_007406.1:g.15893G>T , LRG_308:g.15893G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1695G>T	ENSP00000460666.3:p.Lys565Asn
ENST00000565038.2:c.212-1190G>T	ENSP00000459882.2:n.212-1190G>T
ENST00000566069.6:c.1689G>T	ENSP00000459237.2:p.Lys563Asn
ENST00000697377.2:c.1695G>T	ENSP00000513286.2:p.Lys565Asn
ENST00000697379.2:c.1695G>T	ENSP00000513287.2:p.Lys565Asn
ENST00000561514.2:c.804G>T	ENSP00000460666.2:p.Lys268Asn
ENST00000697374.1:c.804G>T	ENSP00000513284.1:p.Lys268Asn
ENST00000697375.1:n.3036G>T
ENST00000697376.1:c.804G>T	ENSP00000513285.1:p.Lys268Asn
ENST00000697377.1:c.804G>T	ENSP00000513286.1:p.Lys268Asn
ENST00000697378.1:n.2209G>T
ENST00000697379.1:c.804G>T	ENSP00000513287.1:p.Lys268Asn
ENST00000697380.1:n.617G>T
ENST00000697381.1:n.384G>T
ENST00000697382.1:c.804G>T	ENSP00000513288.1:p.Lys268Asn
ENST00000697383.1:c.49-1190G>T	ENSP00000513289.1:n.49-1190G>T
ENST00000697384.1:n.1843G>T
ENST00000261584.9:c.1689G>T MANE Select	ENSP00000261584.4:p.Lys563Asn
ENST00000261584.8:c.1689G>T	ENSP00000261584.4:p.Lys563Asn
ENST00000565038.1:c.87-1190G>T
ENST00000568219.5:c.804G>T	ENSP00000454703.2:p.Lys268Asn
NM_024675.3:c.1689G>T , LRG_308t1:c.1689G>T	NP_078951.2:p.Lys563Asn
XM_011545946.1:c.1695G>T	XP_011544248.1:p.Lys565Asn
XM_011545947.1:c.1695G>T	XP_011544249.1:p.Lys565Asn
XM_011545948.1:c.804G>T	XP_011544250.1:p.Lys268Asn
XR_950851.1:n.2485G>T
XM_011545946.2:c.1695G>T	XP_011544248.1:p.Lys565Asn
XM_011545947.2:c.1695G>T	XP_011544249.1:p.Lys565Asn
XM_011545948.2:c.804G>T	XP_011544250.1:p.Lys268Asn
XM_017023671.1:c.1695G>T	XP_016879160.1:p.Lys565Asn
XM_017023672.2:c.1689G>T	XP_016879161.1:p.Lys563Asn
XM_017023673.2:c.1689G>T	XP_016879162.1:p.Lys563Asn
NM_024675.4:c.1689G>T MANE Select	NP_078951.2:p.Lys563Asn