Canonical Allele Identifier: CA7963891

Gene: PALB2

Linked Data

• ClinVar Variation Id: 241558
• ClinVar RCV Id: RCV000230496 ; RCV001121825 ; RCV002436040
• dbSNP Id: rs756519825
• ExAC: 16:23652477 A / G
• gnomAD v2: 16-23652477-A-G
• gnomAD v4: 16-23641156-A-G
• MyVariant Identifiers: chr16:g.23652477A>G (hg19) ; chr16:g.23641156A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641156A>G , CM000678.2:g.23641156A>G	GRCh38
NC_000016.9:g.23652477A>G , CM000678.1:g.23652477A>G	GRCh37
NC_000016.8:g.23559978A>G	NCBI36
NG_007406.1:g.5202T>C , LRG_308:g.5202T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-851T>C	ENSP00000460666.3:n.-851T>C
ENST00000565038.2:c.2T>C	ENSP00000459882.2:p.Met1Thr
ENST00000566069.6:c.2T>C	ENSP00000459237.2:p.Met1Thr
ENST00000697377.2:c.-238T>C	ENSP00000513286.2:n.-238T>C
ENST00000697379.2:c.-144T>C	ENSP00000513287.2:n.-144T>C
ENST00000561514.2:c.-1742T>C	ENSP00000460666.2:n.-1742T>C
ENST00000697374.1:c.-1333T>C	ENSP00000513284.1:n.-1333T>C
ENST00000697376.1:c.-1054T>C	ENSP00000513285.1:n.-1054T>C
ENST00000697377.1:c.-1129T>C	ENSP00000513286.1:n.-1129T>C
ENST00000697379.1:c.-1035T>C	ENSP00000513287.1:n.-1035T>C
ENST00000697382.1:c.-1793T>C	ENSP00000513288.1:n.-1793T>C
ENST00000697383.1:c.2T>C	ENSP00000513289.1:p.Met1Thr
ENST00000697384.1:n.156T>C
ENST00000261584.9:c.2T>C MANE Select	ENSP00000261584.4:p.Met1Thr
ENST00000261584.8:c.2T>C	ENSP00000261584.4:p.Met1Thr
ENST00000567003.1:n.146T>C
ENST00000568219.5:c.-867T>C	ENSP00000454703.2:n.-867T>C
NM_024675.3:c.2T>C , LRG_308t1:c.2T>C	NP_078951.2:p.Met1Thr
XM_011545948.1:c.-1018T>C	XP_011544250.1:n.-1018T>C
XM_011545946.2:c.-851T>C	XP_011544248.1:n.-851T>C
XM_011545947.2:c.-851T>C	XP_011544249.1:n.-851T>C
XM_011545948.2:c.-1018T>C	XP_011544250.1:n.-1018T>C
XM_017023671.1:c.-851T>C	XP_016879160.1:n.-851T>C
XM_017023672.2:c.2T>C	XP_016879161.1:p.Met1Thr
XM_017023673.2:c.2T>C	XP_016879162.1:p.Met1Thr
NM_024675.4:c.2T>C MANE Select	NP_078951.2:p.Met1Thr