Canonical Allele Identifier: CA395137659

Gene: PALB2

Linked Data

• dbSNP Id: rs1966394739
• MyVariant Identifiers: chr16:g.23614793T>G (hg19) ; chr16:g.23603472T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603472T>G , CM000678.2:g.23603472T>G	GRCh38
NC_000016.9:g.23614793T>G , CM000678.1:g.23614793T>G	GRCh37
NC_000016.8:g.23522294T>G	NCBI36
NG_007406.1:g.42886A>C , LRG_308:g.42886A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3554A>C	ENSP00000460666.3:p.Tyr1185Ser
ENST00000565038.2:c.*1033A>C	ENSP00000459882.2:n.*1033A>C
ENST00000566069.6:c.*183A>C	ENSP00000459237.2:n.*183A>C
ENST00000697377.2:c.3392A>C	ENSP00000513286.2:p.Tyr1131Ser
ENST00000697379.2:c.3554A>C	ENSP00000513287.2:p.Tyr1185Ser
ENST00000561514.2:c.2663A>C	ENSP00000460666.2:p.Tyr888Ser
ENST00000697374.1:c.2663A>C	ENSP00000513284.1:p.Tyr888Ser
ENST00000697375.1:n.4895A>C
ENST00000697376.1:c.*183A>C	ENSP00000513285.1:n.*183A>C
ENST00000697377.1:c.2501A>C	ENSP00000513286.1:p.Tyr834Ser
ENST00000697378.1:n.4068A>C
ENST00000697379.1:c.2663A>C	ENSP00000513287.1:p.Tyr888Ser
ENST00000697380.1:n.2752A>C
ENST00000697381.1:n.2243A>C
ENST00000697382.1:c.*325A>C	ENSP00000513288.1:n.*325A>C
ENST00000697383.1:c.1082A>C	ENSP00000513289.1:p.Tyr361Ser
ENST00000261584.9:c.3548A>C MANE Select	ENSP00000261584.4:p.Tyr1183Ser
ENST00000261584.8:c.3548A>C	ENSP00000261584.4:p.Tyr1183Ser
ENST00000566069.5:c.314A>C
ENST00000568219.5:c.2663A>C	ENSP00000454703.2:p.Tyr888Ser
NM_024675.3:c.3548A>C , LRG_308t1:c.3548A>C	NP_078951.2:p.Tyr1183Ser
XM_011545946.1:c.3554A>C	XP_011544248.1:p.Tyr1185Ser
XM_011545947.1:c.*183A>C	XP_011544249.1:n.*183A>C
XM_011545948.1:c.2663A>C	XP_011544250.1:p.Tyr888Ser
XR_950851.1:n.4256A>C
XM_011545946.2:c.3554A>C	XP_011544248.1:p.Tyr1185Ser
XM_011545947.2:c.*183A>C	XP_011544249.1:n.*183A>C
XM_011545948.2:c.2663A>C	XP_011544250.1:p.Tyr888Ser
XM_017023671.1:c.3317A>C	XP_016879160.1:p.Tyr1106Ser
XM_017023672.2:c.3311A>C	XP_016879161.1:p.Tyr1104Ser
XM_017023673.2:c.*183A>C	XP_016879162.1:n.*183A>C
NM_024675.4:c.3548A>C MANE Select	NP_078951.2:p.Tyr1183Ser