Canonical Allele Identifier: CA2090150

Gene: BARD1

Linked Data

• ClinVar Variation Id: 482800
• ClinVar RCV Id: RCV000567746
• dbSNP Id: rs751710099
• ExAC: 2:215609851 G / C
• gnomAD v2: 2-215609851-G-C
• gnomAD v4: 2-214745127-G-C
• COSMIC: COSM4424343 ; COSM4424344
• MyVariant Identifiers: chr2:g.215609851G>C (hg19) ; chr2:g.214745127G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745127G>C , CM000664.2:g.214745127G>C	GRCh38
NC_000002.11:g.215609851G>C , CM000664.1:g.215609851G>C	GRCh37
NC_000002.10:g.215318096G>C	NCBI36
NG_012047.2:g.69578C>G
NG_012047.3:g.69585C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1843C>G MANE Select	ENSP00000260947.4:p.Gln615Glu
ENST00000421162.2:c.490C>G	ENSP00000392245.2:p.Gln164Glu
ENST00000613192.2:c.159-14619C>G	ENSP00000483275.2:n.159-14619C>G
ENST00000613374.5:c.433C>G	ENSP00000484464.1:p.Gln145Glu
ENST00000613706.5:c.1435C>G	ENSP00000484976.2:p.Gln479Glu
ENST00000617164.5:c.1786C>G	ENSP00000480470.1:p.Gln596Glu
ENST00000619009.5:c.365-14619C>G	ENSP00000482293.1:n.365-14619C>G
ENST00000650978.1:c.3218C>G
ENST00000260947.8:c.1843C>G	ENSP00000260947.4:p.Gln615Glu
ENST00000421162.1:c.490C>G	ENSP00000392245.1:p.Gln164Glu
ENST00000455743.5:c.*1463C>G	ENSP00000412186.1:n.*1463C>G
ENST00000613192.1:c.74-14619C>G	ENSP00000483275.1:n.74-14619C>G
ENST00000613374.4:c.433C>G	ENSP00000484464.1:p.Gln145Glu
ENST00000613706.4:c.490C>G	ENSP00000484976.1:p.Gln164Glu
ENST00000617164.4:c.1786C>G	ENSP00000480470.1:p.Gln596Glu
ENST00000619009.4:c.365-14619C>G	ENSP00000482293.1:n.365-14619C>G
ENST00000620057.4:c.*509C>G	ENSP00000481988.1:n.*509C>G
NM_000465.3:c.1843C>G	NP_000456.2:p.Gln615Glu
NM_001282543.1:c.1786C>G	NP_001269472.1:p.Gln596Glu
NM_001282545.1:c.490C>G	NP_001269474.1:p.Gln164Glu
NM_001282548.1:c.433C>G	NP_001269477.1:p.Gln145Glu
NM_001282549.1:c.365-14619C>G	NP_001269478.1:n.365-14619C>G
NR_104212.1:n.1836C>G
NR_104215.1:n.1779C>G
NR_104216.1:n.1035C>G
XM_011511567.1:c.1789C>G	XP_011509869.1:p.Gln597Glu
XM_011511568.1:c.1843C>G	XP_011509870.1:p.Gln615Glu
XM_017004613.1:c.1942C>G	XP_016860102.1:p.Gln648Glu
XM_017004614.1:c.1942C>G	XP_016860103.1:p.Gln648Glu
XR_002959322.1:n.2033C>G
NM_000465.4:c.1843C>G MANE Select	NP_000456.2:p.Gln615Glu
NM_001282543.2:c.1786C>G	NP_001269472.1:p.Gln596Glu
NM_001282545.2:c.490C>G	NP_001269474.1:p.Gln164Glu
NM_001282548.2:c.433C>G	NP_001269477.1:p.Gln145Glu
NM_001282549.2:c.365-14619C>G	NP_001269478.1:n.365-14619C>G
NR_104212.2:n.1808C>G
NR_104215.2:n.1751C>G
NR_104216.2:n.1007C>G