Canonical Allele Identifier: CA395141443
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23614080G>T , CM000678.2:g.23614080G>T GRCh38
NC_000016.9:g.23625401G>T , CM000678.1:g.23625401G>T GRCh37
NC_000016.8:g.23532902G>T NCBI36
NG_007406.1:g.32278C>A , LRG_308:g.32278C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3131C>A ENSP00000460666.3:p.Thr1044Asn
ENST00000565038.2:c.*606C>A ENSP00000459882.2:n.*606C>A
ENST00000566069.6:c.3125C>A ENSP00000459237.2:p.Thr1042Asn
ENST00000697377.2:c.2969C>A ENSP00000513286.2:p.Thr990Asn
ENST00000697379.2:c.3131C>A ENSP00000513287.2:p.Thr1044Asn
ENST00000561514.2:c.2240C>A ENSP00000460666.2:p.Thr747Asn
ENST00000697374.1:c.2240C>A ENSP00000513284.1:p.Thr747Asn
ENST00000697375.1:n.4472C>A
ENST00000697376.1:c.2240C>A ENSP00000513285.1:p.Thr747Asn
ENST00000697377.1:c.2078C>A ENSP00000513286.1:p.Thr693Asn
ENST00000697378.1:n.3645C>A
ENST00000697379.1:c.2240C>A ENSP00000513287.1:p.Thr747Asn
ENST00000697380.1:n.2406-6068C>A
ENST00000697381.1:n.1820C>A
ENST00000697382.1:c.2229-6068C>A ENSP00000513288.1:n.2229-6068C>A
ENST00000697383.1:c.659C>A ENSP00000513289.1:p.Thr220Asn
ENST00000261584.9:c.3125C>A MANE Select ENSP00000261584.4:p.Thr1042Asn
ENST00000261584.8:c.3125C>A ENSP00000261584.4:p.Thr1042Asn
ENST00000566069.5:c.40C>A
ENST00000568219.5:c.2240C>A ENSP00000454703.2:p.Thr747Asn
NM_024675.3:c.3125C>A , LRG_308t1:c.3125C>A NP_078951.2:p.Thr1042Asn
XM_011545946.1:c.3131C>A XP_011544248.1:p.Thr1044Asn
XM_011545947.1:c.3131C>A XP_011544249.1:p.Thr1044Asn
XM_011545948.1:c.2240C>A XP_011544250.1:p.Thr747Asn
XR_950851.1:n.3910-6068C>A
XM_011545946.2:c.3131C>A XP_011544248.1:p.Thr1044Asn
XM_011545947.2:c.3131C>A XP_011544249.1:p.Thr1044Asn
XM_011545948.2:c.2240C>A XP_011544250.1:p.Thr747Asn
XM_017023671.1:c.3119+7282C>A XP_016879160.1:n.3119+7282C>A
XM_017023672.2:c.3113+7282C>A XP_016879161.1:n.3113+7282C>A
XM_017023673.2:c.3125C>A XP_016879162.1:p.Thr1042Asn
NM_024675.4:c.3125C>A MANE Select NP_078951.2:p.Thr1042Asn