Canonical Allele Identifier: CA395141435

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23625399C>A (hg19) ; chr16:g.23614078C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23614078C>A , CM000678.2:g.23614078C>A	GRCh38
NC_000016.9:g.23625399C>A , CM000678.1:g.23625399C>A	GRCh37
NC_000016.8:g.23532900C>A	NCBI36
NG_007406.1:g.32280G>T , LRG_308:g.32280G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261584.9:c.3127G>T MANE Select	ENSP00000261584.4:p.Gly1043Cys
ENST00000261584.8:c.3127G>T	ENSP00000261584.4:p.Gly1043Cys
ENST00000566069.5:n.42G>T
ENST00000568219.5:c.2242G>T	ENSP00000454703.2:p.Gly748Cys
NM_024675.3:c.3127G>T , LRG_308t1:c.3127G>T	NP_078951.2:p.Gly1043Cys
XM_011545946.1:c.3133G>T	XP_011544248.1:p.Gly1045Cys
XM_011545947.1:c.3133G>T	XP_011544249.1:p.Gly1045Cys
XM_011545948.1:c.2242G>T	XP_011544250.1:p.Gly748Cys
XR_950851.1:n.3910-6066G>T
XM_011545946.2:c.3133G>T	XP_011544248.1:p.Gly1045Cys
XM_011545947.2:c.3133G>T	XP_011544249.1:p.Gly1045Cys
XM_011545948.2:c.2242G>T	XP_011544250.1:p.Gly748Cys
XM_017023671.1:c.3119+7284G>T	XP_016879160.1:p.=
XM_017023672.2:c.3113+7284G>T	XP_016879161.1:p.=
XM_017023673.2:c.3127G>T	XP_016879162.1:p.Gly1043Cys
NM_024675.4:c.3127G>T MANE Select	NP_078951.2:p.Gly1043Cys