Canonical Allele Identifier: CA7963892

Gene: PALB2

Linked Data

• dbSNP Id: rs748971865
• ExAC: 16:23652496 G / T
• gnomAD v2: 16-23652496-G-T
• gnomAD v3: 16-23641175-G-T
• gnomAD v4: 16-23641175-G-T
• MyVariant Identifiers: chr16:g.23652496G>T (hg19) ; chr16:g.23641175G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641175G>T , CM000678.2:g.23641175G>T	GRCh38
NC_000016.9:g.23652496G>T , CM000678.1:g.23652496G>T	GRCh37
NC_000016.8:g.23559997G>T	NCBI36
NG_007406.1:g.5183C>A , LRG_308:g.5183C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-870C>A	ENSP00000460666.3:n.-870C>A
ENST00000565038.2:c.-18C>A	ENSP00000459882.2:n.-18C>A
ENST00000566069.6:c.-18C>A	ENSP00000459237.2:n.-18C>A
ENST00000697377.2:c.-257C>A	ENSP00000513286.2:n.-257C>A
ENST00000697379.2:c.-163C>A	ENSP00000513287.2:n.-163C>A
ENST00000561514.2:c.-1761C>A	ENSP00000460666.2:n.-1761C>A
ENST00000697374.1:c.-1352C>A	ENSP00000513284.1:n.-1352C>A
ENST00000697376.1:c.-1073C>A	ENSP00000513285.1:n.-1073C>A
ENST00000697377.1:c.-1148C>A	ENSP00000513286.1:n.-1148C>A
ENST00000697379.1:c.-1054C>A	ENSP00000513287.1:n.-1054C>A
ENST00000697382.1:c.-1812C>A	ENSP00000513288.1:n.-1812C>A
ENST00000697383.1:c.-18C>A	ENSP00000513289.1:n.-18C>A
ENST00000697384.1:n.137C>A
ENST00000261584.9:c.-18C>A MANE Select	ENSP00000261584.4:n.-18C>A
ENST00000261584.8:c.-18C>A	ENSP00000261584.4:n.-18C>A
ENST00000567003.1:n.127C>A
ENST00000568219.5:c.-886C>A	ENSP00000454703.2:n.-886C>A
NM_024675.3:c.-18C>A , LRG_308t1:c.-18C>A	NP_078951.2:n.-18C>A
XM_011545948.1:c.-1037C>A	XP_011544250.1:n.-1037C>A
XM_011545946.2:c.-870C>A	XP_011544248.1:n.-870C>A
XM_011545947.2:c.-870C>A	XP_011544249.1:n.-870C>A
XM_011545948.2:c.-1037C>A	XP_011544250.1:n.-1037C>A
XM_017023671.1:c.-870C>A	XP_016879160.1:n.-870C>A
XM_017023672.2:c.-18C>A	XP_016879161.1:n.-18C>A
XM_017023673.2:c.-18C>A	XP_016879162.1:n.-18C>A
NM_024675.4:c.-18C>A MANE Select	NP_078951.2:n.-18C>A