Canonical Allele Identifier: CA395141495

Gene: PALB2

Linked Data

• gnomAD v4: 16-23614089-T-C
• MyVariant Identifiers: chr16:g.23625410T>C (hg19) ; chr16:g.23614089T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23614089T>C , CM000678.2:g.23614089T>C	GRCh38
NC_000016.9:g.23625410T>C , CM000678.1:g.23625410T>C	GRCh37
NC_000016.8:g.23532911T>C	NCBI36
NG_007406.1:g.32269A>G , LRG_308:g.32269A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3122A>G	ENSP00000460666.3:p.Asn1041Ser
ENST00000565038.2:c.*597A>G	ENSP00000459882.2:n.*597A>G
ENST00000566069.6:c.3116A>G	ENSP00000459237.2:p.Asn1039Ser
ENST00000697377.2:c.2960A>G	ENSP00000513286.2:p.Asn987Ser
ENST00000697379.2:c.3122A>G	ENSP00000513287.2:p.Asn1041Ser
ENST00000561514.2:c.2231A>G	ENSP00000460666.2:p.Asn744Ser
ENST00000697374.1:c.2231A>G	ENSP00000513284.1:p.Asn744Ser
ENST00000697375.1:n.4463A>G
ENST00000697376.1:c.2231A>G	ENSP00000513285.1:p.Asn744Ser
ENST00000697377.1:c.2069A>G	ENSP00000513286.1:p.Asn690Ser
ENST00000697378.1:n.3636A>G
ENST00000697379.1:c.2231A>G	ENSP00000513287.1:p.Asn744Ser
ENST00000697380.1:n.2406-6077A>G
ENST00000697381.1:n.1811A>G
ENST00000697382.1:c.2229-6077A>G	ENSP00000513288.1:n.2229-6077A>G
ENST00000697383.1:c.650A>G	ENSP00000513289.1:p.Asn217Ser
ENST00000261584.9:c.3116A>G MANE Select	ENSP00000261584.4:p.Asn1039Ser
ENST00000261584.8:c.3116A>G	ENSP00000261584.4:p.Asn1039Ser
ENST00000566069.5:c.31A>G
ENST00000568219.5:c.2231A>G	ENSP00000454703.2:p.Asn744Ser
NM_024675.3:c.3116A>G , LRG_308t1:c.3116A>G	NP_078951.2:p.Asn1039Ser
XM_011545946.1:c.3122A>G	XP_011544248.1:p.Asn1041Ser
XM_011545947.1:c.3122A>G	XP_011544249.1:p.Asn1041Ser
XM_011545948.1:c.2231A>G	XP_011544250.1:p.Asn744Ser
XR_950851.1:n.3910-6077A>G
XM_011545946.2:c.3122A>G	XP_011544248.1:p.Asn1041Ser
XM_011545947.2:c.3122A>G	XP_011544249.1:p.Asn1041Ser
XM_011545948.2:c.2231A>G	XP_011544250.1:p.Asn744Ser
XM_017023671.1:c.3119+7273A>G	XP_016879160.1:n.3119+7273A>G
XM_017023672.2:c.3113+7273A>G	XP_016879161.1:n.3113+7273A>G
XM_017023673.2:c.3116A>G	XP_016879162.1:p.Asn1039Ser
NM_024675.4:c.3116A>G MANE Select	NP_078951.2:p.Asn1039Ser