Canonical Allele Identifier: CA395138238

Gene: PALB2

Linked Data

• dbSNP Id: rs1567205148
• MyVariant Identifiers: chr16:g.23614935T>G (hg19) ; chr16:g.23603614T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603614T>G , CM000678.2:g.23603614T>G	GRCh38
NC_000016.9:g.23614935T>G , CM000678.1:g.23614935T>G	GRCh37
NC_000016.8:g.23522436T>G	NCBI36
NG_007406.1:g.42744A>C , LRG_308:g.42744A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3412A>C	ENSP00000460666.3:p.Thr1138Pro
ENST00000565038.2:c.*891A>C	ENSP00000459882.2:n.*891A>C
ENST00000566069.6:c.*41A>C	ENSP00000459237.2:n.*41A>C
ENST00000697377.2:c.3250A>C	ENSP00000513286.2:p.Thr1084Pro
ENST00000697379.2:c.3412A>C	ENSP00000513287.2:p.Thr1138Pro
ENST00000561514.2:c.2521A>C	ENSP00000460666.2:p.Thr841Pro
ENST00000697374.1:c.2521A>C	ENSP00000513284.1:p.Thr841Pro
ENST00000697375.1:n.4753A>C
ENST00000697376.1:c.*41A>C	ENSP00000513285.1:n.*41A>C
ENST00000697377.1:c.2359A>C	ENSP00000513286.1:p.Thr787Pro
ENST00000697378.1:n.3926A>C
ENST00000697379.1:c.2521A>C	ENSP00000513287.1:p.Thr841Pro
ENST00000697380.1:n.2610A>C
ENST00000697381.1:n.2101A>C
ENST00000697382.1:c.*183A>C	ENSP00000513288.1:n.*183A>C
ENST00000697383.1:c.940A>C	ENSP00000513289.1:p.Thr314Pro
ENST00000261584.9:c.3406A>C MANE Select	ENSP00000261584.4:p.Thr1136Pro
ENST00000261584.8:c.3406A>C	ENSP00000261584.4:p.Thr1136Pro
ENST00000566069.5:c.172A>C
ENST00000568219.5:c.2521A>C	ENSP00000454703.2:p.Thr841Pro
NM_024675.3:c.3406A>C , LRG_308t1:c.3406A>C	NP_078951.2:p.Thr1136Pro
XM_011545946.1:c.3412A>C	XP_011544248.1:p.Thr1138Pro
XM_011545947.1:c.*41A>C	XP_011544249.1:n.*41A>C
XM_011545948.1:c.2521A>C	XP_011544250.1:p.Thr841Pro
XR_950851.1:n.4114A>C
XM_011545946.2:c.3412A>C	XP_011544248.1:p.Thr1138Pro
XM_011545947.2:c.*41A>C	XP_011544249.1:n.*41A>C
XM_011545948.2:c.2521A>C	XP_011544250.1:p.Thr841Pro
XM_017023671.1:c.3175A>C	XP_016879160.1:p.Thr1059Pro
XM_017023672.2:c.3169A>C	XP_016879161.1:p.Thr1057Pro
XM_017023673.2:c.*41A>C	XP_016879162.1:n.*41A>C
NM_024675.4:c.3406A>C MANE Select	NP_078951.2:p.Thr1136Pro