Canonical Allele Identifier: CA395142937
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1727283
ClinVar RCV Id: RCV002319798
dbSNP Id: rs746872839

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621402C>A , CM000678.2:g.23621402C>A GRCh38
NC_000016.9:g.23632723C>A , CM000678.1:g.23632723C>A GRCh37
NC_000016.8:g.23540224C>A NCBI36
NG_007406.1:g.24956G>T , LRG_308:g.24956G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3079G>T ENSP00000460666.3:p.Ala1027Ser
ENST00000565038.2:c.*554G>T ENSP00000459882.2:n.*554G>T
ENST00000566069.6:c.3073G>T ENSP00000459237.2:p.Ala1025Ser
ENST00000697377.2:c.2917G>T ENSP00000513286.2:p.Ala973Ser
ENST00000697379.2:c.3079G>T ENSP00000513287.2:p.Ala1027Ser
ENST00000561514.2:c.2188G>T ENSP00000460666.2:p.Ala730Ser
ENST00000697374.1:c.2188G>T ENSP00000513284.1:p.Ala730Ser
ENST00000697375.1:n.4420G>T
ENST00000697376.1:c.2188G>T ENSP00000513285.1:p.Ala730Ser
ENST00000697377.1:c.2026G>T ENSP00000513286.1:p.Ala676Ser
ENST00000697378.1:n.3593G>T
ENST00000697379.1:c.2188G>T ENSP00000513287.1:p.Ala730Ser
ENST00000697380.1:n.2365G>T
ENST00000697381.1:n.1768G>T
ENST00000697382.1:c.2188G>T ENSP00000513288.1:p.Ala730Ser
ENST00000697383.1:c.607G>T ENSP00000513289.1:p.Ala203Ser
ENST00000261584.9:c.3073G>T MANE Select ENSP00000261584.4:p.Ala1025Ser
ENST00000261584.8:c.3073G>T ENSP00000261584.4:p.Ala1025Ser
ENST00000568219.5:c.2188G>T ENSP00000454703.2:p.Ala730Ser
NM_024675.3:c.3073G>T , LRG_308t1:c.3073G>T NP_078951.2:p.Ala1025Ser
XM_011545946.1:c.3079G>T XP_011544248.1:p.Ala1027Ser
XM_011545947.1:c.3079G>T XP_011544249.1:p.Ala1027Ser
XM_011545948.1:c.2188G>T XP_011544250.1:p.Ala730Ser
XR_950851.1:n.3869G>T
XM_011545946.2:c.3079G>T XP_011544248.1:p.Ala1027Ser
XM_011545947.2:c.3079G>T XP_011544249.1:p.Ala1027Ser
XM_011545948.2:c.2188G>T XP_011544250.1:p.Ala730Ser
XM_017023671.1:c.3079G>T XP_016879160.1:p.Ala1027Ser
XM_017023672.2:c.3073G>T XP_016879161.1:p.Ala1025Ser
XM_017023673.2:c.3073G>T XP_016879162.1:p.Ala1025Ser
NM_024675.4:c.3073G>T MANE Select NP_078951.2:p.Ala1025Ser