Canonical Allele Identifier: CA395137454

Gene: PALB2

Linked Data

• ClinVar Variation Id: 530135
• ClinVar RCV Id: RCV000635806
• dbSNP Id: rs1555461809
• MyVariant Identifiers: chr16:g.23647479G>T (hg19) ; chr16:g.23636158G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636158G>T , CM000678.2:g.23636158G>T	GRCh38
NC_000016.9:g.23647479G>T , CM000678.1:g.23647479G>T	GRCh37
NC_000016.8:g.23554980G>T	NCBI36
NG_007406.1:g.10200C>A , LRG_308:g.10200C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.394C>A	ENSP00000460666.3:p.His132Asn
ENST00000565038.2:c.211+1692C>A	ENSP00000459882.2:n.211+1692C>A
ENST00000566069.6:c.388C>A	ENSP00000459237.2:p.His130Asn
ENST00000697377.2:c.394C>A	ENSP00000513286.2:p.His132Asn
ENST00000697379.2:c.394C>A	ENSP00000513287.2:p.His132Asn
ENST00000561514.2:c.-498C>A	ENSP00000460666.2:n.-498C>A
ENST00000697374.1:c.-498C>A	ENSP00000513284.1:n.-498C>A
ENST00000697375.1:n.1735C>A
ENST00000697376.1:c.-498C>A	ENSP00000513285.1:n.-498C>A
ENST00000697377.1:c.-498C>A	ENSP00000513286.1:n.-498C>A
ENST00000697378.1:n.908C>A
ENST00000697379.1:c.-498C>A	ENSP00000513287.1:n.-498C>A
ENST00000697382.1:c.-498C>A	ENSP00000513288.1:n.-498C>A
ENST00000697383.1:c.48+4952C>A	ENSP00000513289.1:n.48+4952C>A
ENST00000697384.1:n.542C>A
ENST00000261584.9:c.388C>A MANE Select	ENSP00000261584.4:p.His130Asn
ENST00000261584.8:c.388C>A	ENSP00000261584.4:p.His130Asn
ENST00000565038.1:c.86+1692C>A
ENST00000567003.1:n.666C>A
ENST00000568219.5:c.-498C>A	ENSP00000454703.2:n.-498C>A
NM_024675.3:c.388C>A , LRG_308t1:c.388C>A	NP_078951.2:p.His130Asn
XM_011545946.1:c.394C>A	XP_011544248.1:p.His132Asn
XM_011545947.1:c.394C>A	XP_011544249.1:p.His132Asn
XM_011545948.1:c.-498C>A	XP_011544250.1:n.-498C>A
XR_950851.1:n.1184C>A
XM_011545946.2:c.394C>A	XP_011544248.1:p.His132Asn
XM_011545947.2:c.394C>A	XP_011544249.1:p.His132Asn
XM_011545948.2:c.-498C>A	XP_011544250.1:n.-498C>A
XM_017023671.1:c.394C>A	XP_016879160.1:p.His132Asn
XM_017023672.2:c.388C>A	XP_016879161.1:p.His130Asn
XM_017023673.2:c.388C>A	XP_016879162.1:p.His130Asn
NM_024675.4:c.388C>A MANE Select	NP_078951.2:p.His130Asn