Canonical Allele Identifier: CA7963758
Community Standard Title: NM_024675.4(PALB2):c.773G>A (p.Ser258Asn)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635773C>T , CM000678.2:g.23635773C>T GRCh38
NC_000016.9:g.23647094C>T , CM000678.1:g.23647094C>T GRCh37
NC_000016.8:g.23554595C>T NCBI36
NG_007406.1:g.10585G>A , LRG_308:g.10585G>A

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.773G>A MANE Select NP_078951.2:p.Ser258Asn
ENST00000261584.9:c.773G>A MANE Select ENSP00000261584.4:p.Ser258Asn
NM_024675.3:c.773G>A , LRG_308t1:c.773G>A NP_078951.2:p.Ser258Asn
ENST00000261584.8:c.773G>A ENSP00000261584.4:p.Ser258Asn
ENST00000561514.2:c.-113G>A ENSP00000460666.2:n.-113G>A
ENST00000561514.3:c.779G>A ENSP00000460666.3:p.Ser260Asn
ENST00000565038.1:c.86+2077G>A
ENST00000565038.2:c.211+2077G>A ENSP00000459882.2:n.211+2077G>A
ENST00000566069.6:c.773G>A ENSP00000459237.2:p.Ser258Asn
ENST00000568219.5:c.-113G>A ENSP00000454703.2:n.-113G>A
ENST00000697374.1:c.-113G>A ENSP00000513284.1:n.-113G>A
ENST00000697375.1:n.2120G>A
ENST00000697376.1:c.-113G>A ENSP00000513285.1:n.-113G>A
ENST00000697377.1:c.-113G>A ENSP00000513286.1:n.-113G>A
ENST00000697377.2:c.779G>A ENSP00000513286.2:p.Ser260Asn
ENST00000697378.1:n.1293G>A
ENST00000697379.1:c.-113G>A ENSP00000513287.1:n.-113G>A
ENST00000697379.2:c.779G>A ENSP00000513287.2:p.Ser260Asn
ENST00000697382.1:c.-113G>A ENSP00000513288.1:n.-113G>A
ENST00000697383.1:c.48+5337G>A ENSP00000513289.1:n.48+5337G>A
ENST00000697384.1:n.927G>A
XM_011545946.1:c.779G>A XP_011544248.1:p.Ser260Asn
XM_011545946.2:c.779G>A XP_011544248.1:p.Ser260Asn
XM_011545947.1:c.779G>A XP_011544249.1:p.Ser260Asn
XM_011545947.2:c.779G>A XP_011544249.1:p.Ser260Asn
XM_011545948.1:c.-113G>A XP_011544250.1:n.-113G>A
XM_011545948.2:c.-113G>A XP_011544250.1:n.-113G>A
XM_017023671.1:c.779G>A XP_016879160.1:p.Ser260Asn
XM_017023672.2:c.773G>A XP_016879161.1:p.Ser258Asn
XM_017023673.2:c.773G>A XP_016879162.1:p.Ser258Asn
XR_950851.1:n.1569G>A