Canonical Allele Identifier: CA279524941

Gene: PALB2

Linked Data

• ClinVar Variation Id: 823829
• ClinVar RCV Id: RCV001020420 ; RCV001873333
• dbSNP Id: rs145369260
• MyVariant Identifiers: chr16:g.23614854T>C (hg19) ; chr16:g.23603533T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603533T>C , CM000678.2:g.23603533T>C	GRCh38
NC_000016.9:g.23614854T>C , CM000678.1:g.23614854T>C	GRCh37
NC_000016.8:g.23522355T>C	NCBI36
NG_007406.1:g.42825A>G , LRG_308:g.42825A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3493A>G	ENSP00000460666.3:p.Lys1165Glu
ENST00000565038.2:c.*972A>G	ENSP00000459882.2:n.*972A>G
ENST00000566069.6:c.*122A>G	ENSP00000459237.2:n.*122A>G
ENST00000697377.2:c.3331A>G	ENSP00000513286.2:p.Lys1111Glu
ENST00000697379.2:c.3493A>G	ENSP00000513287.2:p.Lys1165Glu
ENST00000561514.2:c.2602A>G	ENSP00000460666.2:p.Lys868Glu
ENST00000697374.1:c.2602A>G	ENSP00000513284.1:p.Lys868Glu
ENST00000697375.1:n.4834A>G
ENST00000697376.1:c.*122A>G	ENSP00000513285.1:n.*122A>G
ENST00000697377.1:c.2440A>G	ENSP00000513286.1:p.Lys814Glu
ENST00000697378.1:n.4007A>G
ENST00000697379.1:c.2602A>G	ENSP00000513287.1:p.Lys868Glu
ENST00000697380.1:n.2691A>G
ENST00000697381.1:n.2182A>G
ENST00000697382.1:c.*264A>G	ENSP00000513288.1:n.*264A>G
ENST00000697383.1:c.1021A>G	ENSP00000513289.1:p.Lys341Glu
ENST00000261584.9:c.3487A>G MANE Select	ENSP00000261584.4:p.Lys1163Glu
ENST00000261584.8:c.3487A>G	ENSP00000261584.4:p.Lys1163Glu
ENST00000566069.5:c.253A>G
ENST00000568219.5:c.2602A>G	ENSP00000454703.2:p.Lys868Glu
NM_024675.3:c.3487A>G , LRG_308t1:c.3487A>G	NP_078951.2:p.Lys1163Glu
XM_011545946.1:c.3493A>G	XP_011544248.1:p.Lys1165Glu
XM_011545947.1:c.*122A>G	XP_011544249.1:n.*122A>G
XM_011545948.1:c.2602A>G	XP_011544250.1:p.Lys868Glu
XR_950851.1:n.4195A>G
XM_011545946.2:c.3493A>G	XP_011544248.1:p.Lys1165Glu
XM_011545947.2:c.*122A>G	XP_011544249.1:n.*122A>G
XM_011545948.2:c.2602A>G	XP_011544250.1:p.Lys868Glu
XM_017023671.1:c.3256A>G	XP_016879160.1:p.Lys1086Glu
XM_017023672.2:c.3250A>G	XP_016879161.1:p.Lys1084Glu
XM_017023673.2:c.*122A>G	XP_016879162.1:n.*122A>G
NM_024675.4:c.3487A>G MANE Select	NP_078951.2:p.Lys1163Glu