Canonical Allele Identifier: CA494180196
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 530223
ClinVar RCV Id: RCV000635971
dbSNP Id: rs1555459417

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621466G>A , CM000678.2:g.23621466G>A GRCh38
NC_000016.9:g.23632787G>A , CM000678.1:g.23632787G>A GRCh37
NC_000016.8:g.23540288G>A NCBI36
NG_007406.1:g.24892C>T , LRG_308:g.24892C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3015C>T ENSP00000460666.3:p.Asn1005=
ENST00000565038.2:c.*490C>T ENSP00000459882.2:n.*490C>T
ENST00000566069.6:c.3009C>T ENSP00000459237.2:p.Asn1003=
ENST00000697377.2:c.2853C>T ENSP00000513286.2:p.Asn951=
ENST00000697379.2:c.3015C>T ENSP00000513287.2:p.Asn1005=
ENST00000561514.2:c.2124C>T ENSP00000460666.2:p.Asn708=
ENST00000697374.1:c.2124C>T ENSP00000513284.1:p.Asn708=
ENST00000697375.1:n.4356C>T
ENST00000697376.1:c.2124C>T ENSP00000513285.1:p.Asn708=
ENST00000697377.1:c.1962C>T ENSP00000513286.1:p.Asn654=
ENST00000697378.1:n.3529C>T
ENST00000697379.1:c.2124C>T ENSP00000513287.1:p.Asn708=
ENST00000697380.1:n.2301C>T
ENST00000697381.1:n.1704C>T
ENST00000697382.1:c.2124C>T ENSP00000513288.1:p.Asn708=
ENST00000697383.1:c.543C>T ENSP00000513289.1:p.Asn181=
ENST00000261584.9:c.3009C>T MANE Select ENSP00000261584.4:p.Asn1003=
ENST00000261584.8:c.3009C>T ENSP00000261584.4:p.Asn1003=
ENST00000568219.5:c.2124C>T ENSP00000454703.2:p.Asn708=
NM_024675.3:c.3009C>T , LRG_308t1:c.3009C>T NP_078951.2:p.Asn1003=
XM_011545946.1:c.3015C>T XP_011544248.1:p.Asn1005=
XM_011545947.1:c.3015C>T XP_011544249.1:p.Asn1005=
XM_011545948.1:c.2124C>T XP_011544250.1:p.Asn708=
XR_950851.1:n.3805C>T
XM_011545946.2:c.3015C>T XP_011544248.1:p.Asn1005=
XM_011545947.2:c.3015C>T XP_011544249.1:p.Asn1005=
XM_011545948.2:c.2124C>T XP_011544250.1:p.Asn708=
XM_017023671.1:c.3015C>T XP_016879160.1:p.Asn1005=
XM_017023672.2:c.3009C>T XP_016879161.1:p.Asn1003=
XM_017023673.2:c.3009C>T XP_016879162.1:p.Asn1003=
NM_024675.4:c.3009C>T MANE Select NP_078951.2:p.Asn1003=