Canonical Allele Identifier: CA395139182
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 492218
dbSNP Id: rs1555458171

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23607862G>C , CM000678.2:g.23607862G>C GRCh38
NC_000016.9:g.23619183G>C , CM000678.1:g.23619183G>C GRCh37
NC_000016.8:g.23526684G>C NCBI36
NG_007406.1:g.38496C>G , LRG_308:g.38496C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.3356+2C>G ENSP00000460666.3:n.3356+2C>G
ENST00000565038.2:c.*833C>G ENSP00000459882.2:n.*833C>G
ENST00000566069.6:c.3202-4193C>G ENSP00000459237.2:n.3202-4193C>G
ENST00000697377.2:c.3194+2C>G ENSP00000513286.2:n.3194+2C>G
ENST00000697379.2:c.3356+2C>G ENSP00000513287.2:n.3356+2C>G
ENST00000561514.2:c.2465+2C>G ENSP00000460666.2:n.2465+2C>G
ENST00000697374.1:c.2465+2C>G ENSP00000513284.1:n.2465+2C>G
ENST00000697375.1:n.4697+2C>G
ENST00000697376.1:c.2317-4193C>G ENSP00000513285.1:n.2317-4193C>G
ENST00000697377.1:c.2303+2C>G ENSP00000513286.1:n.2303+2C>G
ENST00000697378.1:n.3870+2C>G
ENST00000697379.1:c.2465+2C>G ENSP00000513287.1:n.2465+2C>G
ENST00000697380.1:n.2554+2C>G
ENST00000697381.1:n.2045+2C>G
ENST00000697382.1:c.*127+2C>G ENSP00000513288.1:n.*127+2C>G
ENST00000697383.1:c.884+2C>G ENSP00000513289.1:n.884+2C>G
ENST00000261584.9:c.3350+2C>G MANE Select ENSP00000261584.4:n.3350+2C>G
ENST00000261584.8:c.3350+2C>G ENSP00000261584.4:n.3350+2C>G
ENST00000566069.5:c.117-4193C>G
ENST00000568219.5:c.2465+2C>G ENSP00000454703.2:n.2465+2C>G
NM_024675.3:c.3350+2C>G , LRG_308t1:c.3350+2C>G NP_078951.2:n.3350+2C>G
XM_011545946.1:c.3356+2C>G XP_011544248.1:n.3356+2C>G
XM_011545947.1:c.3208-4193C>G XP_011544249.1:n.3208-4193C>G
XM_011545948.1:c.2465+2C>G XP_011544250.1:n.2465+2C>G
XR_950851.1:n.4058+2C>G
XM_011545946.2:c.3356+2C>G XP_011544248.1:n.3356+2C>G
XM_011545947.2:c.3208-4193C>G XP_011544249.1:n.3208-4193C>G
XM_011545948.2:c.2465+2C>G XP_011544250.1:n.2465+2C>G
XM_017023671.1:c.3120-4193C>G XP_016879160.1:n.3120-4193C>G
XM_017023672.2:c.3114-4193C>G XP_016879161.1:n.3114-4193C>G
XM_017023673.2:c.3202-4193C>G XP_016879162.1:n.3202-4193C>G
NM_024675.4:c.3350+2C>G MANE Select NP_078951.2:n.3350+2C>G