Canonical Allele Identifier: CA395136821

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1002669
• ClinVar RCV Id: RCV001299127
• dbSNP Id: rs1967038001
• MyVariant Identifiers: chr16:g.23647305C>A (hg19) ; chr16:g.23635984C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635984C>A , CM000678.2:g.23635984C>A	GRCh38
NC_000016.9:g.23647305C>A , CM000678.1:g.23647305C>A	GRCh37
NC_000016.8:g.23554806C>A	NCBI36
NG_007406.1:g.10374G>T , LRG_308:g.10374G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.568G>T	ENSP00000460666.3:p.Ala190Ser
ENST00000565038.2:c.211+1866G>T	ENSP00000459882.2:n.211+1866G>T
ENST00000566069.6:c.562G>T	ENSP00000459237.2:p.Ala188Ser
ENST00000697377.2:c.568G>T	ENSP00000513286.2:p.Ala190Ser
ENST00000697379.2:c.568G>T	ENSP00000513287.2:p.Ala190Ser
ENST00000561514.2:c.-324G>T	ENSP00000460666.2:n.-324G>T
ENST00000697374.1:c.-324G>T	ENSP00000513284.1:n.-324G>T
ENST00000697375.1:n.1909G>T
ENST00000697376.1:c.-324G>T	ENSP00000513285.1:n.-324G>T
ENST00000697377.1:c.-324G>T	ENSP00000513286.1:n.-324G>T
ENST00000697378.1:n.1082G>T
ENST00000697379.1:c.-324G>T	ENSP00000513287.1:n.-324G>T
ENST00000697382.1:c.-324G>T	ENSP00000513288.1:n.-324G>T
ENST00000697383.1:c.48+5126G>T	ENSP00000513289.1:n.48+5126G>T
ENST00000697384.1:n.716G>T
ENST00000261584.9:c.562G>T MANE Select	ENSP00000261584.4:p.Ala188Ser
ENST00000261584.8:c.562G>T	ENSP00000261584.4:p.Ala188Ser
ENST00000565038.1:c.86+1866G>T
ENST00000568219.5:c.-324G>T	ENSP00000454703.2:n.-324G>T
NM_024675.3:c.562G>T , LRG_308t1:c.562G>T	NP_078951.2:p.Ala188Ser
XM_011545946.1:c.568G>T	XP_011544248.1:p.Ala190Ser
XM_011545947.1:c.568G>T	XP_011544249.1:p.Ala190Ser
XM_011545948.1:c.-324G>T	XP_011544250.1:n.-324G>T
XR_950851.1:n.1358G>T
XM_011545946.2:c.568G>T	XP_011544248.1:p.Ala190Ser
XM_011545947.2:c.568G>T	XP_011544249.1:p.Ala190Ser
XM_011545948.2:c.-324G>T	XP_011544250.1:n.-324G>T
XM_017023671.1:c.568G>T	XP_016879160.1:p.Ala190Ser
XM_017023672.2:c.562G>T	XP_016879161.1:p.Ala188Ser
XM_017023673.2:c.562G>T	XP_016879162.1:p.Ala188Ser
NM_024675.4:c.562G>T MANE Select	NP_078951.2:p.Ala188Ser