Canonical Allele Identifier: CA395137666

Gene: PALB2

Linked Data

• dbSNP Id: rs1567204915
• MyVariant Identifiers: chr16:g.23614794A>T (hg19) ; chr16:g.23603473A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603473A>T , CM000678.2:g.23603473A>T	GRCh38
NC_000016.9:g.23614794A>T , CM000678.1:g.23614794A>T	GRCh37
NC_000016.8:g.23522295A>T	NCBI36
NG_007406.1:g.42885T>A , LRG_308:g.42885T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3553T>A	ENSP00000460666.3:p.Tyr1185Asn
ENST00000565038.2:c.*1032T>A	ENSP00000459882.2:n.*1032T>A
ENST00000566069.6:c.*182T>A	ENSP00000459237.2:n.*182T>A
ENST00000697377.2:c.3391T>A	ENSP00000513286.2:p.Tyr1131Asn
ENST00000697379.2:c.3553T>A	ENSP00000513287.2:p.Tyr1185Asn
ENST00000561514.2:c.2662T>A	ENSP00000460666.2:p.Tyr888Asn
ENST00000697374.1:c.2662T>A	ENSP00000513284.1:p.Tyr888Asn
ENST00000697375.1:n.4894T>A
ENST00000697376.1:c.*182T>A	ENSP00000513285.1:n.*182T>A
ENST00000697377.1:c.2500T>A	ENSP00000513286.1:p.Tyr834Asn
ENST00000697378.1:n.4067T>A
ENST00000697379.1:c.2662T>A	ENSP00000513287.1:p.Tyr888Asn
ENST00000697380.1:n.2751T>A
ENST00000697381.1:n.2242T>A
ENST00000697382.1:c.*324T>A	ENSP00000513288.1:n.*324T>A
ENST00000697383.1:c.1081T>A	ENSP00000513289.1:p.Tyr361Asn
ENST00000261584.9:c.3547T>A MANE Select	ENSP00000261584.4:p.Tyr1183Asn
ENST00000261584.8:c.3547T>A	ENSP00000261584.4:p.Tyr1183Asn
ENST00000566069.5:c.313T>A
ENST00000568219.5:c.2662T>A	ENSP00000454703.2:p.Tyr888Asn
NM_024675.3:c.3547T>A , LRG_308t1:c.3547T>A	NP_078951.2:p.Tyr1183Asn
XM_011545946.1:c.3553T>A	XP_011544248.1:p.Tyr1185Asn
XM_011545947.1:c.*182T>A	XP_011544249.1:n.*182T>A
XM_011545948.1:c.2662T>A	XP_011544250.1:p.Tyr888Asn
XR_950851.1:n.4255T>A
XM_011545946.2:c.3553T>A	XP_011544248.1:p.Tyr1185Asn
XM_011545947.2:c.*182T>A	XP_011544249.1:n.*182T>A
XM_011545948.2:c.2662T>A	XP_011544250.1:p.Tyr888Asn
XM_017023671.1:c.3316T>A	XP_016879160.1:p.Tyr1106Asn
XM_017023672.2:c.3310T>A	XP_016879161.1:p.Tyr1104Asn
XM_017023673.2:c.*182T>A	XP_016879162.1:n.*182T>A
NM_024675.4:c.3547T>A MANE Select	NP_078951.2:p.Tyr1183Asn