Canonical Allele Identifier: CA395143058
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs1567212950

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621438T>A , CM000678.2:g.23621438T>A GRCh38
NC_000016.9:g.23632759T>A , CM000678.1:g.23632759T>A GRCh37
NC_000016.8:g.23540260T>A NCBI36
NG_007406.1:g.24920A>T , LRG_308:g.24920A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3043A>T ENSP00000460666.3:p.Ile1015Leu
ENST00000565038.2:c.*518A>T ENSP00000459882.2:n.*518A>T
ENST00000566069.6:c.3037A>T ENSP00000459237.2:p.Ile1013Leu
ENST00000697377.2:c.2881A>T ENSP00000513286.2:p.Ile961Leu
ENST00000697379.2:c.3043A>T ENSP00000513287.2:p.Ile1015Leu
ENST00000561514.2:c.2152A>T ENSP00000460666.2:p.Ile718Leu
ENST00000697374.1:c.2152A>T ENSP00000513284.1:p.Ile718Leu
ENST00000697375.1:n.4384A>T
ENST00000697376.1:c.2152A>T ENSP00000513285.1:p.Ile718Leu
ENST00000697377.1:c.1990A>T ENSP00000513286.1:p.Ile664Leu
ENST00000697378.1:n.3557A>T
ENST00000697379.1:c.2152A>T ENSP00000513287.1:p.Ile718Leu
ENST00000697380.1:n.2329A>T
ENST00000697381.1:n.1732A>T
ENST00000697382.1:c.2152A>T ENSP00000513288.1:p.Ile718Leu
ENST00000697383.1:c.571A>T ENSP00000513289.1:p.Ile191Leu
ENST00000261584.9:c.3037A>T MANE Select ENSP00000261584.4:p.Ile1013Leu
ENST00000261584.8:c.3037A>T ENSP00000261584.4:p.Ile1013Leu
ENST00000568219.5:c.2152A>T ENSP00000454703.2:p.Ile718Leu
NM_024675.3:c.3037A>T , LRG_308t1:c.3037A>T NP_078951.2:p.Ile1013Leu
XM_011545946.1:c.3043A>T XP_011544248.1:p.Ile1015Leu
XM_011545947.1:c.3043A>T XP_011544249.1:p.Ile1015Leu
XM_011545948.1:c.2152A>T XP_011544250.1:p.Ile718Leu
XR_950851.1:n.3833A>T
XM_011545946.2:c.3043A>T XP_011544248.1:p.Ile1015Leu
XM_011545947.2:c.3043A>T XP_011544249.1:p.Ile1015Leu
XM_011545948.2:c.2152A>T XP_011544250.1:p.Ile718Leu
XM_017023671.1:c.3043A>T XP_016879160.1:p.Ile1015Leu
XM_017023672.2:c.3037A>T XP_016879161.1:p.Ile1013Leu
XM_017023673.2:c.3037A>T XP_016879162.1:p.Ile1013Leu
NM_024675.4:c.3037A>T MANE Select NP_078951.2:p.Ile1013Leu