Canonical Allele Identifier: CA494173772
Gene: PALB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.23614957T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603636T>C , CM000678.2:g.23603636T>C GRCh38
NC_000016.9:g.23614957T>C , CM000678.1:g.23614957T>C GRCh37
NC_000016.8:g.23522458T>C NCBI36
NG_007406.1:g.42722A>G , LRG_308:g.42722A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3390A>G ENSP00000460666.3:p.Ala1130=
ENST00000565038.2:c.*869A>G ENSP00000459882.2:n.*869A>G
ENST00000566069.6:c.*19A>G ENSP00000459237.2:n.*19A>G
ENST00000697377.2:c.3228A>G ENSP00000513286.2:p.Ala1076=
ENST00000697379.2:c.3390A>G ENSP00000513287.2:p.Ala1130=
ENST00000561514.2:c.2499A>G ENSP00000460666.2:p.Ala833=
ENST00000697374.1:c.2499A>G ENSP00000513284.1:p.Ala833=
ENST00000697375.1:n.4731A>G
ENST00000697376.1:c.*19A>G ENSP00000513285.1:n.*19A>G
ENST00000697377.1:c.2337A>G ENSP00000513286.1:p.Ala779=
ENST00000697378.1:n.3904A>G
ENST00000697379.1:c.2499A>G ENSP00000513287.1:p.Ala833=
ENST00000697380.1:n.2588A>G
ENST00000697381.1:n.2079A>G
ENST00000697382.1:c.*161A>G ENSP00000513288.1:n.*161A>G
ENST00000697383.1:c.918A>G ENSP00000513289.1:p.Ala306=
ENST00000261584.9:c.3384A>G MANE Select ENSP00000261584.4:p.Ala1128=
ENST00000261584.8:c.3384A>G ENSP00000261584.4:p.Ala1128=
ENST00000566069.5:c.150A>G
ENST00000568219.5:c.2499A>G ENSP00000454703.2:p.Ala833=
NM_024675.3:c.3384A>G , LRG_308t1:c.3384A>G NP_078951.2:p.Ala1128=
XM_011545946.1:c.3390A>G XP_011544248.1:p.Ala1130=
XM_011545947.1:c.*19A>G XP_011544249.1:n.*19A>G
XM_011545948.1:c.2499A>G XP_011544250.1:p.Ala833=
XR_950851.1:n.4092A>G
XM_011545946.2:c.3390A>G XP_011544248.1:p.Ala1130=
XM_011545947.2:c.*19A>G XP_011544249.1:n.*19A>G
XM_011545948.2:c.2499A>G XP_011544250.1:p.Ala833=
XM_017023671.1:c.3153A>G XP_016879160.1:p.Ala1051=
XM_017023672.2:c.3147A>G XP_016879161.1:p.Ala1049=
XM_017023673.2:c.*19A>G XP_016879162.1:n.*19A>G
NM_024675.4:c.3384A>G MANE Select NP_078951.2:p.Ala1128=