Canonical Allele Identifier: CA395121853
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs995629797

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23626254A>C , CM000678.2:g.23626254A>C GRCh38
NC_000016.9:g.23637575A>C , CM000678.1:g.23637575A>C GRCh37
NC_000016.8:g.23545076A>C NCBI36
NG_007406.1:g.20104T>G , LRG_308:g.20104T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2736T>G ENSP00000460666.3:p.Tyr912Ter
ENST00000565038.2:c.*211T>G ENSP00000459882.2:n.*211T>G
ENST00000566069.6:c.2730T>G ENSP00000459237.2:p.Tyr910Ter
ENST00000697377.2:c.2593-2160T>G ENSP00000513286.2:n.2593-2160T>G
ENST00000697379.2:c.2736T>G ENSP00000513287.2:p.Tyr912Ter
ENST00000561514.2:c.1845T>G ENSP00000460666.2:p.Tyr615Ter
ENST00000697374.1:c.1845T>G ENSP00000513284.1:p.Tyr615Ter
ENST00000697375.1:n.4077T>G
ENST00000697376.1:c.1845T>G ENSP00000513285.1:p.Tyr615Ter
ENST00000697377.1:c.1702-2160T>G ENSP00000513286.1:n.1702-2160T>G
ENST00000697378.1:n.3250T>G
ENST00000697379.1:c.1845T>G ENSP00000513287.1:p.Tyr615Ter
ENST00000697380.1:n.2022T>G
ENST00000697381.1:n.1425T>G
ENST00000697382.1:c.1845T>G ENSP00000513288.1:p.Tyr615Ter
ENST00000697383.1:c.264T>G ENSP00000513289.1:p.Tyr88Ter
ENST00000261584.9:c.2730T>G MANE Select ENSP00000261584.4:p.Tyr910Ter
ENST00000261584.8:c.2730T>G ENSP00000261584.4:p.Tyr910Ter
ENST00000565038.1:c.302T>G
ENST00000568219.5:c.1845T>G ENSP00000454703.2:p.Tyr615Ter
NM_024675.3:c.2730T>G , LRG_308t1:c.2730T>G NP_078951.2:p.Tyr910Ter
XM_011545946.1:c.2736T>G XP_011544248.1:p.Tyr912Ter
XM_011545947.1:c.2736T>G XP_011544249.1:p.Tyr912Ter
XM_011545948.1:c.1845T>G XP_011544250.1:p.Tyr615Ter
XR_950851.1:n.3526T>G
XM_011545946.2:c.2736T>G XP_011544248.1:p.Tyr912Ter
XM_011545947.2:c.2736T>G XP_011544249.1:p.Tyr912Ter
XM_011545948.2:c.1845T>G XP_011544250.1:p.Tyr615Ter
XM_017023671.1:c.2736T>G XP_016879160.1:p.Tyr912Ter
XM_017023672.2:c.2730T>G XP_016879161.1:p.Tyr910Ter
XM_017023673.2:c.2730T>G XP_016879162.1:p.Tyr910Ter
NM_024675.4:c.2730T>G MANE Select NP_078951.2:p.Tyr910Ter