Canonical Allele Identifier: CA494180200
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs2142328482
MyVariant Identifiers: chr16:g.23632796G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621475G>C , CM000678.2:g.23621475G>C GRCh38
NC_000016.9:g.23632796G>C , CM000678.1:g.23632796G>C GRCh37
NC_000016.8:g.23540297G>C NCBI36
NG_007406.1:g.24883C>G , LRG_308:g.24883C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3006C>G ENSP00000460666.3:p.Gly1002=
ENST00000565038.2:c.*481C>G ENSP00000459882.2:n.*481C>G
ENST00000566069.6:c.3000C>G ENSP00000459237.2:p.Gly1000=
ENST00000697377.2:c.2844C>G ENSP00000513286.2:p.Gly948=
ENST00000697379.2:c.3006C>G ENSP00000513287.2:p.Gly1002=
ENST00000561514.2:c.2115C>G ENSP00000460666.2:p.Gly705=
ENST00000697374.1:c.2115C>G ENSP00000513284.1:p.Gly705=
ENST00000697375.1:n.4347C>G
ENST00000697376.1:c.2115C>G ENSP00000513285.1:p.Gly705=
ENST00000697377.1:c.1953C>G ENSP00000513286.1:p.Gly651=
ENST00000697378.1:n.3520C>G
ENST00000697379.1:c.2115C>G ENSP00000513287.1:p.Gly705=
ENST00000697380.1:n.2292C>G
ENST00000697381.1:n.1695C>G
ENST00000697382.1:c.2115C>G ENSP00000513288.1:p.Gly705=
ENST00000697383.1:c.534C>G ENSP00000513289.1:p.Gly178=
ENST00000261584.9:c.3000C>G MANE Select ENSP00000261584.4:p.Gly1000=
ENST00000261584.8:c.3000C>G ENSP00000261584.4:p.Gly1000=
ENST00000568219.5:c.2115C>G ENSP00000454703.2:p.Gly705=
NM_024675.3:c.3000C>G , LRG_308t1:c.3000C>G NP_078951.2:p.Gly1000=
XM_011545946.1:c.3006C>G XP_011544248.1:p.Gly1002=
XM_011545947.1:c.3006C>G XP_011544249.1:p.Gly1002=
XM_011545948.1:c.2115C>G XP_011544250.1:p.Gly705=
XR_950851.1:n.3796C>G
XM_011545946.2:c.3006C>G XP_011544248.1:p.Gly1002=
XM_011545947.2:c.3006C>G XP_011544249.1:p.Gly1002=
XM_011545948.2:c.2115C>G XP_011544250.1:p.Gly705=
XM_017023671.1:c.3006C>G XP_016879160.1:p.Gly1002=
XM_017023672.2:c.3000C>G XP_016879161.1:p.Gly1000=
XM_017023673.2:c.3000C>G XP_016879162.1:p.Gly1000=
NM_024675.4:c.3000C>G MANE Select NP_078951.2:p.Gly1000=