Canonical Allele Identifier: CA294556
Gene: PALB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 143966
dbSNP Id: rs587776415

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630080G>A , CM000678.2:g.23630080G>A GRCh38
NC_000016.9:g.23641401G>A , CM000678.1:g.23641401G>A GRCh37
NC_000016.8:g.23548902G>A NCBI36
NG_007406.1:g.16278C>T , LRG_308:g.16278C>T

Transcript Alleles

HGVS Amino-acid change
NM_024675.3:c.2074C>T , LRG_308t1:c.2074C>T NP_078951.2:p.Gln692Ter
XM_011545946.1:c.2080C>T XP_011544248.1:p.Gln694Ter
XM_011545947.1:c.2080C>T XP_011544249.1:p.Gln694Ter
XM_011545948.1:c.1189C>T XP_011544250.1:p.Gln397Ter
XR_950851.1:n.2870C>T
XM_011545946.2:c.2080C>T XP_011544248.1:p.Gln694Ter
XM_011545947.2:c.2080C>T XP_011544249.1:p.Gln694Ter
XM_011545948.2:c.1189C>T XP_011544250.1:p.Gln397Ter
XM_017023671.1:c.2080C>T XP_016879160.1:p.Gln694Ter
XM_017023672.2:c.2074C>T XP_016879161.1:p.Gln692Ter
XM_017023673.2:c.2074C>T XP_016879162.1:p.Gln692Ter
ENST00000261584.8:c.2074C>T ENSP00000261584.4:p.Gln692Ter
ENST00000565038.1:n.87-805C>T
ENST00000568219.5:c.1189C>T ENSP00000454703.2:p.Gln397Ter