Canonical Allele Identifier: CA395127757

Gene: PALB2

Linked Data

• dbSNP Id: rs1966864871
• gnomAD v3: 16-23630298-A-G
• gnomAD v4: 16-23630298-A-G
• MyVariant Identifiers: chr16:g.23641619A>G (hg19) ; chr16:g.23630298A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630298A>G , CM000678.2:g.23630298A>G	GRCh38
NC_000016.9:g.23641619A>G , CM000678.1:g.23641619A>G	GRCh37
NC_000016.8:g.23549120A>G	NCBI36
NG_007406.1:g.16060T>C , LRG_308:g.16060T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1862T>C	ENSP00000460666.3:p.Phe621Ser
ENST00000565038.2:c.212-1023T>C	ENSP00000459882.2:n.212-1023T>C
ENST00000566069.6:c.1856T>C	ENSP00000459237.2:p.Phe619Ser
ENST00000697377.2:c.1862T>C	ENSP00000513286.2:p.Phe621Ser
ENST00000697379.2:c.1862T>C	ENSP00000513287.2:p.Phe621Ser
ENST00000561514.2:c.971T>C	ENSP00000460666.2:p.Phe324Ser
ENST00000697374.1:c.971T>C	ENSP00000513284.1:p.Phe324Ser
ENST00000697375.1:n.3203T>C
ENST00000697376.1:c.971T>C	ENSP00000513285.1:p.Phe324Ser
ENST00000697377.1:c.971T>C	ENSP00000513286.1:p.Phe324Ser
ENST00000697378.1:n.2376T>C
ENST00000697379.1:c.971T>C	ENSP00000513287.1:p.Phe324Ser
ENST00000697380.1:n.784T>C
ENST00000697381.1:n.551T>C
ENST00000697382.1:c.971T>C	ENSP00000513288.1:p.Phe324Ser
ENST00000697383.1:c.49-1023T>C	ENSP00000513289.1:n.49-1023T>C
ENST00000697384.1:n.2010T>C
ENST00000261584.9:c.1856T>C MANE Select	ENSP00000261584.4:p.Phe619Ser
ENST00000261584.8:c.1856T>C	ENSP00000261584.4:p.Phe619Ser
ENST00000565038.1:c.87-1023T>C
ENST00000568219.5:c.971T>C	ENSP00000454703.2:p.Phe324Ser
NM_024675.3:c.1856T>C , LRG_308t1:c.1856T>C	NP_078951.2:p.Phe619Ser
XM_011545946.1:c.1862T>C	XP_011544248.1:p.Phe621Ser
XM_011545947.1:c.1862T>C	XP_011544249.1:p.Phe621Ser
XM_011545948.1:c.971T>C	XP_011544250.1:p.Phe324Ser
XR_950851.1:n.2652T>C
XM_011545946.2:c.1862T>C	XP_011544248.1:p.Phe621Ser
XM_011545947.2:c.1862T>C	XP_011544249.1:p.Phe621Ser
XM_011545948.2:c.971T>C	XP_011544250.1:p.Phe324Ser
XM_017023671.1:c.1862T>C	XP_016879160.1:p.Phe621Ser
XM_017023672.2:c.1856T>C	XP_016879161.1:p.Phe619Ser
XM_017023673.2:c.1856T>C	XP_016879162.1:p.Phe619Ser
NM_024675.4:c.1856T>C MANE Select	NP_078951.2:p.Phe619Ser