Canonical Allele Identifier: CA395138966
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23636323T>G , CM000678.2:g.23636323T>G GRCh38
NC_000016.9:g.23647644T>G , CM000678.1:g.23647644T>G GRCh37
NC_000016.8:g.23555145T>G NCBI36
NG_007406.1:g.10035A>C , LRG_308:g.10035A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.229A>C ENSP00000460666.3:p.Lys77Gln
ENST00000565038.2:c.211+1527A>C ENSP00000459882.2:n.211+1527A>C
ENST00000566069.6:c.223A>C ENSP00000459237.2:p.Lys75Gln
ENST00000697377.2:c.229A>C ENSP00000513286.2:p.Lys77Gln
ENST00000697379.2:c.229A>C ENSP00000513287.2:p.Lys77Gln
ENST00000561514.2:c.-663A>C ENSP00000460666.2:n.-663A>C
ENST00000697374.1:c.-663A>C ENSP00000513284.1:n.-663A>C
ENST00000697375.1:n.1570A>C
ENST00000697376.1:c.-663A>C ENSP00000513285.1:n.-663A>C
ENST00000697377.1:c.-663A>C ENSP00000513286.1:n.-663A>C
ENST00000697378.1:n.743A>C
ENST00000697379.1:c.-663A>C ENSP00000513287.1:n.-663A>C
ENST00000697382.1:c.-663A>C ENSP00000513288.1:n.-663A>C
ENST00000697383.1:c.48+4787A>C ENSP00000513289.1:n.48+4787A>C
ENST00000697384.1:n.377A>C
ENST00000261584.9:c.223A>C MANE Select ENSP00000261584.4:p.Lys75Gln
ENST00000261584.8:c.223A>C ENSP00000261584.4:p.Lys75Gln
ENST00000561514.1:c.229A>C ENSP00000460666.1:p.Lys77Gln
ENST00000565038.1:c.86+1527A>C
ENST00000567003.1:n.501A>C
ENST00000568219.5:c.-663A>C ENSP00000454703.2:n.-663A>C
NM_024675.3:c.223A>C , LRG_308t1:c.223A>C NP_078951.2:p.Lys75Gln
XM_011545946.1:c.229A>C XP_011544248.1:p.Lys77Gln
XM_011545947.1:c.229A>C XP_011544249.1:p.Lys77Gln
XM_011545948.1:c.-663A>C XP_011544250.1:n.-663A>C
XR_950851.1:n.1019A>C
XM_011545946.2:c.229A>C XP_011544248.1:p.Lys77Gln
XM_011545947.2:c.229A>C XP_011544249.1:p.Lys77Gln
XM_011545948.2:c.-663A>C XP_011544250.1:n.-663A>C
XM_017023671.1:c.229A>C XP_016879160.1:p.Lys77Gln
XM_017023672.2:c.223A>C XP_016879161.1:p.Lys75Gln
XM_017023673.2:c.223A>C XP_016879162.1:p.Lys75Gln
NM_024675.4:c.223A>C MANE Select NP_078951.2:p.Lys75Gln