Canonical Allele Identifier: CA494173571

Gene: PALB2

Linked Data

• dbSNP Id: rs1597061958
• MyVariant Identifiers: chr16:g.23614855C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603534C>A , CM000678.2:g.23603534C>A	GRCh38
NC_000016.9:g.23614855C>A , CM000678.1:g.23614855C>A	GRCh37
NC_000016.8:g.23522356C>A	NCBI36
NG_007406.1:g.42824G>T , LRG_308:g.42824G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3492G>T	ENSP00000460666.3:p.Val1164=
ENST00000565038.2:c.*971G>T	ENSP00000459882.2:n.*971G>T
ENST00000566069.6:c.*121G>T	ENSP00000459237.2:n.*121G>T
ENST00000697377.2:c.3330G>T	ENSP00000513286.2:p.Val1110=
ENST00000697379.2:c.3492G>T	ENSP00000513287.2:p.Val1164=
ENST00000561514.2:c.2601G>T	ENSP00000460666.2:p.Val867=
ENST00000697374.1:c.2601G>T	ENSP00000513284.1:p.Val867=
ENST00000697375.1:n.4833G>T
ENST00000697376.1:c.*121G>T	ENSP00000513285.1:n.*121G>T
ENST00000697377.1:c.2439G>T	ENSP00000513286.1:p.Val813=
ENST00000697378.1:n.4006G>T
ENST00000697379.1:c.2601G>T	ENSP00000513287.1:p.Val867=
ENST00000697380.1:n.2690G>T
ENST00000697381.1:n.2181G>T
ENST00000697382.1:c.*263G>T	ENSP00000513288.1:n.*263G>T
ENST00000697383.1:c.1020G>T	ENSP00000513289.1:p.Val340=
ENST00000261584.9:c.3486G>T MANE Select	ENSP00000261584.4:p.Val1162=
ENST00000261584.8:c.3486G>T	ENSP00000261584.4:p.Val1162=
ENST00000566069.5:c.252G>T
ENST00000568219.5:c.2601G>T	ENSP00000454703.2:p.Val867=
NM_024675.3:c.3486G>T , LRG_308t1:c.3486G>T	NP_078951.2:p.Val1162=
XM_011545946.1:c.3492G>T	XP_011544248.1:p.Val1164=
XM_011545947.1:c.*121G>T	XP_011544249.1:n.*121G>T
XM_011545948.1:c.2601G>T	XP_011544250.1:p.Val867=
XR_950851.1:n.4194G>T
XM_011545946.2:c.3492G>T	XP_011544248.1:p.Val1164=
XM_011545947.2:c.*121G>T	XP_011544249.1:n.*121G>T
XM_011545948.2:c.2601G>T	XP_011544250.1:p.Val867=
XM_017023671.1:c.3255G>T	XP_016879160.1:p.Val1085=
XM_017023672.2:c.3249G>T	XP_016879161.1:p.Val1083=
XM_017023673.2:c.*121G>T	XP_016879162.1:n.*121G>T
NM_024675.4:c.3486G>T MANE Select	NP_078951.2:p.Val1162=