Canonical Allele Identifier: CA395138292

Gene: PALB2

Linked Data

• dbSNP Id: rs2142255026
• MyVariant Identifiers: chr16:g.23614959C>G (hg19) ; chr16:g.23603638C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603638C>G , CM000678.2:g.23603638C>G	GRCh38
NC_000016.9:g.23614959C>G , CM000678.1:g.23614959C>G	GRCh37
NC_000016.8:g.23522460C>G	NCBI36
NG_007406.1:g.42720G>C , LRG_308:g.42720G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3388G>C	ENSP00000460666.3:p.Ala1130Pro
ENST00000565038.2:c.*867G>C	ENSP00000459882.2:n.*867G>C
ENST00000566069.6:c.*17G>C	ENSP00000459237.2:n.*17G>C
ENST00000697377.2:c.3226G>C	ENSP00000513286.2:p.Ala1076Pro
ENST00000697379.2:c.3388G>C	ENSP00000513287.2:p.Ala1130Pro
ENST00000561514.2:c.2497G>C	ENSP00000460666.2:p.Ala833Pro
ENST00000697374.1:c.2497G>C	ENSP00000513284.1:p.Ala833Pro
ENST00000697375.1:n.4729G>C
ENST00000697376.1:c.*17G>C	ENSP00000513285.1:n.*17G>C
ENST00000697377.1:c.2335G>C	ENSP00000513286.1:p.Ala779Pro
ENST00000697378.1:n.3902G>C
ENST00000697379.1:c.2497G>C	ENSP00000513287.1:p.Ala833Pro
ENST00000697380.1:n.2586G>C
ENST00000697381.1:n.2077G>C
ENST00000697382.1:c.*159G>C	ENSP00000513288.1:n.*159G>C
ENST00000697383.1:c.916G>C	ENSP00000513289.1:p.Ala306Pro
ENST00000261584.9:c.3382G>C MANE Select	ENSP00000261584.4:p.Ala1128Pro
ENST00000261584.8:c.3382G>C	ENSP00000261584.4:p.Ala1128Pro
ENST00000566069.5:c.148G>C
ENST00000568219.5:c.2497G>C	ENSP00000454703.2:p.Ala833Pro
NM_024675.3:c.3382G>C , LRG_308t1:c.3382G>C	NP_078951.2:p.Ala1128Pro
XM_011545946.1:c.3388G>C	XP_011544248.1:p.Ala1130Pro
XM_011545947.1:c.*17G>C	XP_011544249.1:n.*17G>C
XM_011545948.1:c.2497G>C	XP_011544250.1:p.Ala833Pro
XR_950851.1:n.4090G>C
XM_011545946.2:c.3388G>C	XP_011544248.1:p.Ala1130Pro
XM_011545947.2:c.*17G>C	XP_011544249.1:n.*17G>C
XM_011545948.2:c.2497G>C	XP_011544250.1:p.Ala833Pro
XM_017023671.1:c.3151G>C	XP_016879160.1:p.Ala1051Pro
XM_017023672.2:c.3145G>C	XP_016879161.1:p.Ala1049Pro
XM_017023673.2:c.*17G>C	XP_016879162.1:n.*17G>C
NM_024675.4:c.3382G>C MANE Select	NP_078951.2:p.Ala1128Pro