Canonical Allele Identifier: CA395139219

Gene: PALB2

Linked Data

• dbSNP Id: rs1597066554
• MyVariant Identifiers: chr16:g.23619188C>G (hg19) ; chr16:g.23607867C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607867C>G , CM000678.2:g.23607867C>G	GRCh38
NC_000016.9:g.23619188C>G , CM000678.1:g.23619188C>G	GRCh37
NC_000016.8:g.23526689C>G	NCBI36
NG_007406.1:g.38491G>C , LRG_308:g.38491G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3353G>C	ENSP00000460666.3:p.Gly1118Ala
ENST00000565038.2:c.*828G>C	ENSP00000459882.2:n.*828G>C
ENST00000566069.6:c.3202-4198G>C	ENSP00000459237.2:n.3202-4198G>C
ENST00000697377.2:c.3191G>C	ENSP00000513286.2:p.Gly1064Ala
ENST00000697379.2:c.3353G>C	ENSP00000513287.2:p.Gly1118Ala
ENST00000561514.2:c.2462G>C	ENSP00000460666.2:p.Gly821Ala
ENST00000697374.1:c.2462G>C	ENSP00000513284.1:p.Gly821Ala
ENST00000697375.1:n.4694G>C
ENST00000697376.1:c.2317-4198G>C	ENSP00000513285.1:n.2317-4198G>C
ENST00000697377.1:c.2300G>C	ENSP00000513286.1:p.Gly767Ala
ENST00000697378.1:n.3867G>C
ENST00000697379.1:c.2462G>C	ENSP00000513287.1:p.Gly821Ala
ENST00000697380.1:n.2551G>C
ENST00000697381.1:n.2042G>C
ENST00000697382.1:c.*124G>C	ENSP00000513288.1:n.*124G>C
ENST00000697383.1:c.881G>C	ENSP00000513289.1:p.Gly294Ala
ENST00000261584.9:c.3347G>C MANE Select	ENSP00000261584.4:p.Gly1116Ala
ENST00000261584.8:c.3347G>C	ENSP00000261584.4:p.Gly1116Ala
ENST00000566069.5:c.117-4198G>C
ENST00000568219.5:c.2462G>C	ENSP00000454703.2:p.Gly821Ala
NM_024675.3:c.3347G>C , LRG_308t1:c.3347G>C	NP_078951.2:p.Gly1116Ala
XM_011545946.1:c.3353G>C	XP_011544248.1:p.Gly1118Ala
XM_011545947.1:c.3208-4198G>C	XP_011544249.1:n.3208-4198G>C
XM_011545948.1:c.2462G>C	XP_011544250.1:p.Gly821Ala
XR_950851.1:n.4055G>C
XM_011545946.2:c.3353G>C	XP_011544248.1:p.Gly1118Ala
XM_011545947.2:c.3208-4198G>C	XP_011544249.1:n.3208-4198G>C
XM_011545948.2:c.2462G>C	XP_011544250.1:p.Gly821Ala
XM_017023671.1:c.3120-4198G>C	XP_016879160.1:n.3120-4198G>C
XM_017023672.2:c.3114-4198G>C	XP_016879161.1:n.3114-4198G>C
XM_017023673.2:c.3202-4198G>C	XP_016879162.1:n.3202-4198G>C
NM_024675.4:c.3347G>C MANE Select	NP_078951.2:p.Gly1116Ala