Canonical Allele Identifier: CA395136794

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2901670
• ClinVar RCV Id: RCV003608649
• dbSNP Id: rs587780221
• MyVariant Identifiers: chr16:g.23647296G>A (hg19) ; chr16:g.23635975G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635975G>A , CM000678.2:g.23635975G>A	GRCh38
NC_000016.9:g.23647296G>A , CM000678.1:g.23647296G>A	GRCh37
NC_000016.8:g.23554797G>A	NCBI36
NG_007406.1:g.10383C>T , LRG_308:g.10383C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.577C>T	ENSP00000460666.3:p.Pro193Ser
ENST00000565038.2:c.211+1875C>T	ENSP00000459882.2:n.211+1875C>T
ENST00000566069.6:c.571C>T	ENSP00000459237.2:p.Pro191Ser
ENST00000697377.2:c.577C>T	ENSP00000513286.2:p.Pro193Ser
ENST00000697379.2:c.577C>T	ENSP00000513287.2:p.Pro193Ser
ENST00000561514.2:c.-315C>T	ENSP00000460666.2:n.-315C>T
ENST00000697374.1:c.-315C>T	ENSP00000513284.1:n.-315C>T
ENST00000697375.1:n.1918C>T
ENST00000697376.1:c.-315C>T	ENSP00000513285.1:n.-315C>T
ENST00000697377.1:c.-315C>T	ENSP00000513286.1:n.-315C>T
ENST00000697378.1:n.1091C>T
ENST00000697379.1:c.-315C>T	ENSP00000513287.1:n.-315C>T
ENST00000697382.1:c.-315C>T	ENSP00000513288.1:n.-315C>T
ENST00000697383.1:c.48+5135C>T	ENSP00000513289.1:n.48+5135C>T
ENST00000697384.1:n.725C>T
ENST00000261584.9:c.571C>T MANE Select	ENSP00000261584.4:p.Pro191Ser
ENST00000261584.8:c.571C>T	ENSP00000261584.4:p.Pro191Ser
ENST00000565038.1:c.86+1875C>T
ENST00000568219.5:c.-315C>T	ENSP00000454703.2:n.-315C>T
NM_024675.3:c.571C>T , LRG_308t1:c.571C>T	NP_078951.2:p.Pro191Ser
XM_011545946.1:c.577C>T	XP_011544248.1:p.Pro193Ser
XM_011545947.1:c.577C>T	XP_011544249.1:p.Pro193Ser
XM_011545948.1:c.-315C>T	XP_011544250.1:n.-315C>T
XR_950851.1:n.1367C>T
XM_011545946.2:c.577C>T	XP_011544248.1:p.Pro193Ser
XM_011545947.2:c.577C>T	XP_011544249.1:p.Pro193Ser
XM_011545948.2:c.-315C>T	XP_011544250.1:n.-315C>T
XM_017023671.1:c.577C>T	XP_016879160.1:p.Pro193Ser
XM_017023672.2:c.571C>T	XP_016879161.1:p.Pro191Ser
XM_017023673.2:c.571C>T	XP_016879162.1:p.Pro191Ser
NM_024675.4:c.571C>T MANE Select	NP_078951.2:p.Pro191Ser