Canonical Allele Identifier: CA395144541

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2770050
• ClinVar RCV Id: RCV003500455
• dbSNP Id: rs878855113
• MyVariant Identifiers: chr16:g.23634450C>G (hg19) ; chr16:g.23623129C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623129C>G , CM000678.2:g.23623129C>G	GRCh38
NC_000016.9:g.23634450C>G , CM000678.1:g.23634450C>G	GRCh37
NC_000016.8:g.23541951C>G	NCBI36
NG_007406.1:g.23229G>C , LRG_308:g.23229G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2842G>C	ENSP00000460666.3:p.Ala948Pro
ENST00000565038.2:c.*317G>C	ENSP00000459882.2:n.*317G>C
ENST00000566069.6:c.2836G>C	ENSP00000459237.2:p.Ala946Pro
ENST00000697377.2:c.2680G>C	ENSP00000513286.2:p.Ala894Pro
ENST00000697379.2:c.2842G>C	ENSP00000513287.2:p.Ala948Pro
ENST00000561514.2:c.1951G>C	ENSP00000460666.2:p.Ala651Pro
ENST00000697374.1:c.1951G>C	ENSP00000513284.1:p.Ala651Pro
ENST00000697375.1:n.4183G>C
ENST00000697376.1:c.1951G>C	ENSP00000513285.1:p.Ala651Pro
ENST00000697377.1:c.1789G>C	ENSP00000513286.1:p.Ala597Pro
ENST00000697378.1:n.3356G>C
ENST00000697379.1:c.1951G>C	ENSP00000513287.1:p.Ala651Pro
ENST00000697380.1:n.2128G>C
ENST00000697381.1:n.1531G>C
ENST00000697382.1:c.1951G>C	ENSP00000513288.1:p.Ala651Pro
ENST00000697383.1:c.370G>C	ENSP00000513289.1:p.Ala124Pro
ENST00000261584.9:c.2836G>C MANE Select	ENSP00000261584.4:p.Ala946Pro
ENST00000261584.8:c.2836G>C	ENSP00000261584.4:p.Ala946Pro
ENST00000568219.5:c.1951G>C	ENSP00000454703.2:p.Ala651Pro
NM_024675.3:c.2836G>C , LRG_308t1:c.2836G>C	NP_078951.2:p.Ala946Pro
XM_011545946.1:c.2842G>C	XP_011544248.1:p.Ala948Pro
XM_011545947.1:c.2842G>C	XP_011544249.1:p.Ala948Pro
XM_011545948.1:c.1951G>C	XP_011544250.1:p.Ala651Pro
XR_950851.1:n.3632G>C
XM_011545946.2:c.2842G>C	XP_011544248.1:p.Ala948Pro
XM_011545947.2:c.2842G>C	XP_011544249.1:p.Ala948Pro
XM_011545948.2:c.1951G>C	XP_011544250.1:p.Ala651Pro
XM_017023671.1:c.2842G>C	XP_016879160.1:p.Ala948Pro
XM_017023672.2:c.2836G>C	XP_016879161.1:p.Ala946Pro
XM_017023673.2:c.2836G>C	XP_016879162.1:p.Ala946Pro
NM_024675.4:c.2836G>C MANE Select	NP_078951.2:p.Ala946Pro