Canonical Allele Identifier: CA395141053

Gene: PALB2

Linked Data

• ClinVar Variation Id: 490086
• ClinVar RCV Id: RCV000579852
• dbSNP Id: rs876658288
• MyVariant Identifiers: chr16:g.23652441T>G (hg19) ; chr16:g.23641120T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641120T>G , CM000678.2:g.23641120T>G	GRCh38
NC_000016.9:g.23652441T>G , CM000678.1:g.23652441T>G	GRCh37
NC_000016.8:g.23559942T>G	NCBI36
NG_007406.1:g.5238A>C , LRG_308:g.5238A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-815A>C	ENSP00000460666.3:n.-815A>C
ENST00000565038.2:c.38A>C	ENSP00000459882.2:p.Glu13Ala
ENST00000566069.6:c.38A>C	ENSP00000459237.2:p.Glu13Ala
ENST00000697377.2:c.-202A>C	ENSP00000513286.2:n.-202A>C
ENST00000697379.2:c.-108A>C	ENSP00000513287.2:n.-108A>C
ENST00000561514.2:c.-1706A>C	ENSP00000460666.2:n.-1706A>C
ENST00000697374.1:c.-1297A>C	ENSP00000513284.1:n.-1297A>C
ENST00000697376.1:c.-1018A>C	ENSP00000513285.1:n.-1018A>C
ENST00000697377.1:c.-1093A>C	ENSP00000513286.1:n.-1093A>C
ENST00000697379.1:c.-999A>C	ENSP00000513287.1:n.-999A>C
ENST00000697382.1:c.-1757A>C	ENSP00000513288.1:n.-1757A>C
ENST00000697383.1:c.38A>C	ENSP00000513289.1:p.Glu13Ala
ENST00000697384.1:n.192A>C
ENST00000261584.9:c.38A>C MANE Select	ENSP00000261584.4:p.Glu13Ala
ENST00000261584.8:c.38A>C	ENSP00000261584.4:p.Glu13Ala
ENST00000567003.1:n.182A>C
ENST00000568219.5:c.-838+7A>C	ENSP00000454703.2:n.-838+7A>C
NM_024675.3:c.38A>C , LRG_308t1:c.38A>C	NP_078951.2:p.Glu13Ala
XM_011545948.1:c.-982A>C	XP_011544250.1:n.-982A>C
XM_011545946.2:c.-815A>C	XP_011544248.1:n.-815A>C
XM_011545947.2:c.-815A>C	XP_011544249.1:n.-815A>C
XM_011545948.2:c.-982A>C	XP_011544250.1:n.-982A>C
XM_017023671.1:c.-815A>C	XP_016879160.1:n.-815A>C
XM_017023672.2:c.38A>C	XP_016879161.1:p.Glu13Ala
XM_017023673.2:c.38A>C	XP_016879162.1:p.Glu13Ala
NM_024675.4:c.38A>C MANE Select	NP_078951.2:p.Glu13Ala