Canonical Allele Identifier: CA494173830
Gene: PALB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.23614981T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603660T>C , CM000678.2:g.23603660T>C GRCh38
NC_000016.9:g.23614981T>C , CM000678.1:g.23614981T>C GRCh37
NC_000016.8:g.23522482T>C NCBI36
NG_007406.1:g.42698A>G , LRG_308:g.42698A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.3366A>G ENSP00000460666.3:p.Glu1122=
ENST00000565038.2:c.*845A>G ENSP00000459882.2:n.*845A>G
ENST00000566069.6:c.3211A>G ENSP00000459237.2:p.Arg1071Gly
ENST00000697377.2:c.3204A>G ENSP00000513286.2:p.Glu1068=
ENST00000697379.2:c.3366A>G ENSP00000513287.2:p.Glu1122=
ENST00000561514.2:c.2475A>G ENSP00000460666.2:p.Glu825=
ENST00000697374.1:c.2475A>G ENSP00000513284.1:p.Glu825=
ENST00000697375.1:n.4707A>G
ENST00000697376.1:c.2326A>G ENSP00000513285.1:p.Arg776Gly
ENST00000697377.1:c.2313A>G ENSP00000513286.1:p.Glu771=
ENST00000697378.1:n.3880A>G
ENST00000697379.1:c.2475A>G ENSP00000513287.1:p.Glu825=
ENST00000697380.1:n.2564A>G
ENST00000697381.1:n.2055A>G
ENST00000697382.1:c.*137A>G ENSP00000513288.1:n.*137A>G
ENST00000697383.1:c.894A>G ENSP00000513289.1:p.Glu298=
ENST00000261584.9:c.3360A>G MANE Select ENSP00000261584.4:p.Glu1120=
ENST00000261584.8:c.3360A>G ENSP00000261584.4:p.Glu1120=
ENST00000566069.5:c.126A>G
ENST00000568219.5:c.2475A>G ENSP00000454703.2:p.Glu825=
NM_024675.3:c.3360A>G , LRG_308t1:c.3360A>G NP_078951.2:p.Glu1120=
XM_011545946.1:c.3366A>G XP_011544248.1:p.Glu1122=
XM_011545947.1:c.3217A>G XP_011544249.1:p.Arg1073Gly
XM_011545948.1:c.2475A>G XP_011544250.1:p.Glu825=
XR_950851.1:n.4068A>G
XM_011545946.2:c.3366A>G XP_011544248.1:p.Glu1122=
XM_011545947.2:c.3217A>G XP_011544249.1:p.Arg1073Gly
XM_011545948.2:c.2475A>G XP_011544250.1:p.Glu825=
XM_017023671.1:c.3129A>G XP_016879160.1:p.Glu1043=
XM_017023672.2:c.3123A>G XP_016879161.1:p.Glu1041=
XM_017023673.2:c.3211A>G XP_016879162.1:p.Arg1071Gly
NM_024675.4:c.3360A>G MANE Select NP_078951.2:p.Glu1120=