Canonical Allele Identifier: CA719222684

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641194G>A , CM000678.2:g.23641194G>A	GRCh38
NC_000016.9:g.23652515G>A , CM000678.1:g.23652515G>A	GRCh37
NC_000016.8:g.23560016G>A	NCBI36
NG_007406.1:g.5164C>T , LRG_308:g.5164C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-889C>T	ENSP00000460666.3:n.-889C>T
ENST00000565038.2:c.-37C>T	ENSP00000459882.2:n.-37C>T
ENST00000566069.6:c.-37C>T	ENSP00000459237.2:n.-37C>T
ENST00000697377.2:c.-276C>T	ENSP00000513286.2:n.-276C>T
ENST00000697379.2:c.-182C>T	ENSP00000513287.2:n.-182C>T
ENST00000561514.2:c.-1780C>T	ENSP00000460666.2:n.-1780C>T
ENST00000697374.1:c.-1371C>T	ENSP00000513284.1:n.-1371C>T
ENST00000697376.1:c.-1092C>T	ENSP00000513285.1:n.-1092C>T
ENST00000697377.1:c.-1167C>T	ENSP00000513286.1:n.-1167C>T
ENST00000697379.1:c.-1073C>T	ENSP00000513287.1:n.-1073C>T
ENST00000697382.1:c.-1831C>T	ENSP00000513288.1:n.-1831C>T
ENST00000697383.1:c.-37C>T	ENSP00000513289.1:n.-37C>T
ENST00000697384.1:n.118C>T
ENST00000261584.9:c.-37C>T MANE Select	ENSP00000261584.4:n.-37C>T
ENST00000261584.8:c.-37C>T	ENSP00000261584.4:n.-37C>T
ENST00000567003.1:n.108C>T
ENST00000568219.5:c.-905C>T	ENSP00000454703.2:n.-905C>T
NM_024675.3:c.-37C>T , LRG_308t1:c.-37C>T	NP_078951.2:n.-37C>T
XM_011545948.1:c.-1056C>T	XP_011544250.1:n.-1056C>T
XM_011545946.2:c.-889C>T	XP_011544248.1:n.-889C>T
XM_011545947.2:c.-889C>T	XP_011544249.1:n.-889C>T
XM_011545948.2:c.-1056C>T	XP_011544250.1:n.-1056C>T
XM_017023671.1:c.-889C>T	XP_016879160.1:n.-889C>T
XM_017023672.2:c.-37C>T	XP_016879161.1:n.-37C>T
XM_017023673.2:c.-37C>T	XP_016879162.1:n.-37C>T
NM_024675.4:c.-37C>T MANE Select	NP_078951.2:n.-37C>T