Canonical Allele Identifier: CA395142817
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs2142326183

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621374T>A , CM000678.2:g.23621374T>A GRCh38
NC_000016.9:g.23632695T>A , CM000678.1:g.23632695T>A GRCh37
NC_000016.8:g.23540196T>A NCBI36
NG_007406.1:g.24984A>T , LRG_308:g.24984A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3107A>T ENSP00000460666.3:p.Asn1036Ile
ENST00000565038.2:c.*582A>T ENSP00000459882.2:n.*582A>T
ENST00000566069.6:c.3101A>T ENSP00000459237.2:p.Asn1034Ile
ENST00000697377.2:c.2945A>T ENSP00000513286.2:p.Asn982Ile
ENST00000697379.2:c.3107A>T ENSP00000513287.2:p.Asn1036Ile
ENST00000561514.2:c.2216A>T ENSP00000460666.2:p.Asn739Ile
ENST00000697374.1:c.2216A>T ENSP00000513284.1:p.Asn739Ile
ENST00000697375.1:n.4448A>T
ENST00000697376.1:c.2216A>T ENSP00000513285.1:p.Asn739Ile
ENST00000697377.1:c.2054A>T ENSP00000513286.1:p.Asn685Ile
ENST00000697378.1:n.3621A>T
ENST00000697379.1:c.2216A>T ENSP00000513287.1:p.Asn739Ile
ENST00000697380.1:n.2393A>T
ENST00000697381.1:n.1796A>T
ENST00000697382.1:c.2216A>T ENSP00000513288.1:p.Asn739Ile
ENST00000697383.1:c.635A>T ENSP00000513289.1:p.Asn212Ile
ENST00000261584.9:c.3101A>T MANE Select ENSP00000261584.4:p.Asn1034Ile
ENST00000261584.8:c.3101A>T ENSP00000261584.4:p.Asn1034Ile
ENST00000566069.5:c.16A>T
ENST00000568219.5:c.2216A>T ENSP00000454703.2:p.Asn739Ile
NM_024675.3:c.3101A>T , LRG_308t1:c.3101A>T NP_078951.2:p.Asn1034Ile
XM_011545946.1:c.3107A>T XP_011544248.1:p.Asn1036Ile
XM_011545947.1:c.3107A>T XP_011544249.1:p.Asn1036Ile
XM_011545948.1:c.2216A>T XP_011544250.1:p.Asn739Ile
XR_950851.1:n.3897A>T
XM_011545946.2:c.3107A>T XP_011544248.1:p.Asn1036Ile
XM_011545947.2:c.3107A>T XP_011544249.1:p.Asn1036Ile
XM_011545948.2:c.2216A>T XP_011544250.1:p.Asn739Ile
XM_017023671.1:c.3107A>T XP_016879160.1:p.Asn1036Ile
XM_017023672.2:c.3101A>T XP_016879161.1:p.Asn1034Ile
XM_017023673.2:c.3101A>T XP_016879162.1:p.Asn1034Ile
NM_024675.4:c.3101A>T MANE Select NP_078951.2:p.Asn1034Ile