Canonical Allele Identifier: CA279533218

Gene: PALB2

Linked Data

• dbSNP Id: rs1044543735
• gnomAD v3: 16-23621205-G-A
• gnomAD v4: 16-23621205-G-A
• MyVariant Identifiers: chr16:g.23632526G>A (hg19) ; chr16:g.23621205G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23621205G>A , CM000678.2:g.23621205G>A	GRCh38
NC_000016.9:g.23632526G>A , CM000678.1:g.23632526G>A	GRCh37
NC_000016.8:g.23540027G>A	NCBI36
NG_007406.1:g.25153C>T , LRG_308:g.25153C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3119+157C>T	ENSP00000460666.3:n.3119+157C>T
ENST00000565038.2:c.*594+157C>T	ENSP00000459882.2:n.*594+157C>T
ENST00000566069.6:c.3113+157C>T	ENSP00000459237.2:n.3113+157C>T
ENST00000697377.2:c.2957+157C>T	ENSP00000513286.2:n.2957+157C>T
ENST00000697379.2:c.3119+157C>T	ENSP00000513287.2:n.3119+157C>T
ENST00000561514.2:c.2228+157C>T	ENSP00000460666.2:n.2228+157C>T
ENST00000697374.1:c.2228+157C>T	ENSP00000513284.1:n.2228+157C>T
ENST00000697375.1:n.4460+157C>T
ENST00000697376.1:c.2228+157C>T	ENSP00000513285.1:n.2228+157C>T
ENST00000697377.1:c.2066+157C>T	ENSP00000513286.1:n.2066+157C>T
ENST00000697378.1:n.3633+157C>T
ENST00000697379.1:c.2228+157C>T	ENSP00000513287.1:n.2228+157C>T
ENST00000697380.1:n.2405+157C>T
ENST00000697381.1:n.1808+157C>T
ENST00000697382.1:c.2228+157C>T	ENSP00000513288.1:n.2228+157C>T
ENST00000697383.1:c.647+157C>T	ENSP00000513289.1:n.647+157C>T
ENST00000261584.9:c.3113+157C>T MANE Select	ENSP00000261584.4:n.3113+157C>T
ENST00000261584.8:c.3113+157C>T	ENSP00000261584.4:n.3113+157C>T
ENST00000566069.5:c.28+157C>T
ENST00000568219.5:c.2228+157C>T	ENSP00000454703.2:n.2228+157C>T
NM_024675.3:c.3113+157C>T , LRG_308t1:c.3113+157C>T	NP_078951.2:n.3113+157C>T
XM_011545946.1:c.3119+157C>T	XP_011544248.1:n.3119+157C>T
XM_011545947.1:c.3119+157C>T	XP_011544249.1:n.3119+157C>T
XM_011545948.1:c.2228+157C>T	XP_011544250.1:n.2228+157C>T
XR_950851.1:n.3909+157C>T
XM_011545946.2:c.3119+157C>T	XP_011544248.1:n.3119+157C>T
XM_011545947.2:c.3119+157C>T	XP_011544249.1:n.3119+157C>T
XM_011545948.2:c.2228+157C>T	XP_011544250.1:n.2228+157C>T
XM_017023671.1:c.3119+157C>T	XP_016879160.1:n.3119+157C>T
XM_017023672.2:c.3113+157C>T	XP_016879161.1:n.3113+157C>T
XM_017023673.2:c.3113+157C>T	XP_016879162.1:n.3113+157C>T
NM_024675.4:c.3113+157C>T MANE Select	NP_078951.2:n.3113+157C>T