Canonical Allele Identifier: CA164468
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1246
dbSNP Id: rs118203999

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23623003G>A , CM000678.2:g.23623003G>A GRCh38
NC_000016.9:g.23634324G>A , CM000678.1:g.23634324G>A GRCh37
NC_000016.8:g.23541825G>A NCBI36
NG_007406.1:g.23355C>T , LRG_308:g.23355C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2968C>T ENSP00000460666.3:p.Gln990Ter
ENST00000565038.2:c.*443C>T ENSP00000459882.2:n.*443C>T
ENST00000566069.6:c.2962C>T ENSP00000459237.2:p.Gln988Ter
ENST00000697377.2:c.2806C>T ENSP00000513286.2:p.Gln936Ter
ENST00000697379.2:c.2968C>T ENSP00000513287.2:p.Gln990Ter
ENST00000561514.2:c.2077C>T ENSP00000460666.2:p.Gln693Ter
ENST00000697374.1:c.2077C>T ENSP00000513284.1:p.Gln693Ter
ENST00000697375.1:n.4309C>T
ENST00000697376.1:c.2077C>T ENSP00000513285.1:p.Gln693Ter
ENST00000697377.1:c.1915C>T ENSP00000513286.1:p.Gln639Ter
ENST00000697378.1:n.3482C>T
ENST00000697379.1:c.2077C>T ENSP00000513287.1:p.Gln693Ter
ENST00000697380.1:n.2254C>T
ENST00000697381.1:n.1657C>T
ENST00000697382.1:c.2077C>T ENSP00000513288.1:p.Gln693Ter
ENST00000697383.1:c.496C>T ENSP00000513289.1:p.Gln166Ter
ENST00000261584.9:c.2962C>T MANE Select ENSP00000261584.4:p.Gln988Ter
ENST00000261584.8:c.2962C>T ENSP00000261584.4:p.Gln988Ter
ENST00000568219.5:c.2077C>T ENSP00000454703.2:p.Gln693Ter
NM_024675.3:c.2962C>T , LRG_308t1:c.2962C>T NP_078951.2:p.Gln988Ter
XM_011545946.1:c.2968C>T XP_011544248.1:p.Gln990Ter
XM_011545947.1:c.2968C>T XP_011544249.1:p.Gln990Ter
XM_011545948.1:c.2077C>T XP_011544250.1:p.Gln693Ter
XR_950851.1:n.3758C>T
XM_011545946.2:c.2968C>T XP_011544248.1:p.Gln990Ter
XM_011545947.2:c.2968C>T XP_011544249.1:p.Gln990Ter
XM_011545948.2:c.2077C>T XP_011544250.1:p.Gln693Ter
XM_017023671.1:c.2968C>T XP_016879160.1:p.Gln990Ter
XM_017023672.2:c.2962C>T XP_016879161.1:p.Gln988Ter
XM_017023673.2:c.2962C>T XP_016879162.1:p.Gln988Ter
NM_024675.4:c.2962C>T MANE Select NP_078951.2:p.Gln988Ter