Canonical Allele Identifier: CA2732047241
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs2142300535

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23614115C>A , CM000678.2:g.23614115C>A GRCh38
NC_000016.9:g.23625436C>A , CM000678.1:g.23625436C>A GRCh37
NC_000016.8:g.23532937C>A NCBI36
NG_007406.1:g.32243G>T , LRG_308:g.32243G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.3120-24G>T ENSP00000460666.3:n.3120-24G>T
ENST00000565038.2:c.*595-24G>T ENSP00000459882.2:n.*595-24G>T
ENST00000566069.6:c.3114-24G>T ENSP00000459237.2:n.3114-24G>T
ENST00000697377.2:c.2958-24G>T ENSP00000513286.2:n.2958-24G>T
ENST00000697379.2:c.3120-24G>T ENSP00000513287.2:n.3120-24G>T
ENST00000561514.2:c.2229-24G>T ENSP00000460666.2:n.2229-24G>T
ENST00000697374.1:c.2229-24G>T ENSP00000513284.1:n.2229-24G>T
ENST00000697375.1:n.4461-24G>T
ENST00000697376.1:c.2229-24G>T ENSP00000513285.1:n.2229-24G>T
ENST00000697377.1:c.2067-24G>T ENSP00000513286.1:n.2067-24G>T
ENST00000697378.1:n.3634-24G>T
ENST00000697379.1:c.2229-24G>T ENSP00000513287.1:n.2229-24G>T
ENST00000697380.1:n.2406-6103G>T
ENST00000697381.1:n.1809-24G>T
ENST00000697382.1:c.2229-6103G>T ENSP00000513288.1:n.2229-6103G>T
ENST00000697383.1:c.648-24G>T ENSP00000513289.1:n.648-24G>T
ENST00000261584.9:c.3114-24G>T MANE Select ENSP00000261584.4:n.3114-24G>T
ENST00000261584.8:c.3114-24G>T ENSP00000261584.4:n.3114-24G>T
ENST00000566069.5:c.29-24G>T
ENST00000568219.5:c.2229-24G>T ENSP00000454703.2:n.2229-24G>T
NM_024675.3:c.3114-24G>T , LRG_308t1:c.3114-24G>T NP_078951.2:n.3114-24G>T
XM_011545946.1:c.3120-24G>T XP_011544248.1:n.3120-24G>T
XM_011545947.1:c.3120-24G>T XP_011544249.1:n.3120-24G>T
XM_011545948.1:c.2229-24G>T XP_011544250.1:n.2229-24G>T
XR_950851.1:n.3910-6103G>T
XM_011545946.2:c.3120-24G>T XP_011544248.1:n.3120-24G>T
XM_011545947.2:c.3120-24G>T XP_011544249.1:n.3120-24G>T
XM_011545948.2:c.2229-24G>T XP_011544250.1:n.2229-24G>T
XM_017023671.1:c.3119+7247G>T XP_016879160.1:n.3119+7247G>T
XM_017023672.2:c.3113+7247G>T XP_016879161.1:n.3113+7247G>T
XM_017023673.2:c.3114-24G>T XP_016879162.1:n.3114-24G>T
NM_024675.4:c.3114-24G>T MANE Select NP_078951.2:n.3114-24G>T