Canonical Allele Identifier: CA395138206
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1731284
ClinVar RCV Id: RCV002456961

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603598T>C , CM000678.2:g.23603598T>C GRCh38
NC_000016.9:g.23614919T>C , CM000678.1:g.23614919T>C GRCh37
NC_000016.8:g.23522420T>C NCBI36
NG_007406.1:g.42760A>G , LRG_308:g.42760A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3428A>G ENSP00000460666.3:p.Asp1143Gly
ENST00000565038.2:c.*907A>G ENSP00000459882.2:n.*907A>G
ENST00000566069.6:c.*57A>G ENSP00000459237.2:n.*57A>G
ENST00000697377.2:c.3266A>G ENSP00000513286.2:p.Asp1089Gly
ENST00000697379.2:c.3428A>G ENSP00000513287.2:p.Asp1143Gly
ENST00000561514.2:c.2537A>G ENSP00000460666.2:p.Asp846Gly
ENST00000697374.1:c.2537A>G ENSP00000513284.1:p.Asp846Gly
ENST00000697375.1:n.4769A>G
ENST00000697376.1:c.*57A>G ENSP00000513285.1:n.*57A>G
ENST00000697377.1:c.2375A>G ENSP00000513286.1:p.Asp792Gly
ENST00000697378.1:n.3942A>G
ENST00000697379.1:c.2537A>G ENSP00000513287.1:p.Asp846Gly
ENST00000697380.1:n.2626A>G
ENST00000697381.1:n.2117A>G
ENST00000697382.1:c.*199A>G ENSP00000513288.1:n.*199A>G
ENST00000697383.1:c.956A>G ENSP00000513289.1:p.Asp319Gly
ENST00000261584.9:c.3422A>G MANE Select ENSP00000261584.4:p.Asp1141Gly
ENST00000261584.8:c.3422A>G ENSP00000261584.4:p.Asp1141Gly
ENST00000566069.5:c.188A>G
ENST00000568219.5:c.2537A>G ENSP00000454703.2:p.Asp846Gly
NM_024675.3:c.3422A>G , LRG_308t1:c.3422A>G NP_078951.2:p.Asp1141Gly
XM_011545946.1:c.3428A>G XP_011544248.1:p.Asp1143Gly
XM_011545947.1:c.*57A>G XP_011544249.1:n.*57A>G
XM_011545948.1:c.2537A>G XP_011544250.1:p.Asp846Gly
XR_950851.1:n.4130A>G
XM_011545946.2:c.3428A>G XP_011544248.1:p.Asp1143Gly
XM_011545947.2:c.*57A>G XP_011544249.1:n.*57A>G
XM_011545948.2:c.2537A>G XP_011544250.1:p.Asp846Gly
XM_017023671.1:c.3191A>G XP_016879160.1:p.Asp1064Gly
XM_017023672.2:c.3185A>G XP_016879161.1:p.Asp1062Gly
XM_017023673.2:c.*57A>G XP_016879162.1:n.*57A>G
NM_024675.4:c.3422A>G MANE Select NP_078951.2:p.Asp1141Gly