Canonical Allele Identifier: CA350451081

Gene: BARD1

Linked Data

• ClinVar Variation Id: 481377
• ClinVar RCV Id: RCV000571298 ; RCV000706252 ; RCV003488699
• dbSNP Id: rs768490891
• gnomAD v4: 2-214730410-C-G
• MyVariant Identifiers: chr2:g.215595134C>G (hg19) ; chr2:g.214730410C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730410C>G , CM000664.2:g.214730410C>G	GRCh38
NC_000002.11:g.215595134C>G , CM000664.1:g.215595134C>G	GRCh37
NC_000002.10:g.215303379C>G	NCBI36
NG_012047.2:g.84295G>C
NG_012047.3:g.84302G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2001+1G>C MANE Select	ENSP00000260947.4:n.2001+1G>C
ENST00000421162.2:c.648+1G>C	ENSP00000392245.2:n.648+1G>C
ENST00000613192.2:c.*64+1G>C	ENSP00000483275.2:n.*64+1G>C
ENST00000613374.5:c.591+1G>C	ENSP00000484464.1:n.591+1G>C
ENST00000613706.5:c.1593+1G>C	ENSP00000484976.2:n.1593+1G>C
ENST00000617164.5:c.1944+1G>C	ENSP00000480470.1:n.1944+1G>C
ENST00000619009.5:c.462+1G>C	ENSP00000482293.1:n.462+1G>C
ENST00000650978.1:c.3376+1G>C
ENST00000260947.8:c.2001+1G>C	ENSP00000260947.4:n.2001+1G>C
ENST00000432456.5:c.98+1G>C
ENST00000455743.5:c.*1621+1G>C	ENSP00000412186.1:n.*1621+1G>C
ENST00000471590.5:n.336+1G>C
ENST00000613192.1:c.171+1G>C	ENSP00000483275.1:n.171+1G>C
ENST00000613374.4:c.591+1G>C	ENSP00000484464.1:n.591+1G>C
ENST00000613706.4:c.648+1G>C	ENSP00000484976.1:n.648+1G>C
ENST00000617164.4:c.1944+1G>C	ENSP00000480470.1:n.1944+1G>C
ENST00000619009.4:c.462+1G>C	ENSP00000482293.1:n.462+1G>C
ENST00000620057.4:c.*667+1G>C	ENSP00000481988.1:n.*667+1G>C
NM_000465.3:c.2001+1G>C	NP_000456.2:n.2001+1G>C
NM_001282543.1:c.1944+1G>C	NP_001269472.1:n.1944+1G>C
NM_001282545.1:c.648+1G>C	NP_001269474.1:n.648+1G>C
NM_001282548.1:c.591+1G>C	NP_001269477.1:n.591+1G>C
NM_001282549.1:c.462+1G>C	NP_001269478.1:n.462+1G>C
NR_104212.1:n.1994+1G>C
NR_104215.1:n.1937+1G>C
NR_104216.1:n.1193+1G>C
XM_011511567.1:c.1947+1G>C	XP_011509869.1:n.1947+1G>C
XM_017004613.1:c.2100+1G>C	XP_016860102.1:n.2100+1G>C
XR_002959322.1:n.2192G>C
NM_000465.4:c.2001+1G>C MANE Select	NP_000456.2:n.2001+1G>C
NM_001282543.2:c.1944+1G>C	NP_001269472.1:n.1944+1G>C
NM_001282545.2:c.648+1G>C	NP_001269474.1:n.648+1G>C
NM_001282548.2:c.591+1G>C	NP_001269477.1:n.591+1G>C
NM_001282549.2:c.462+1G>C	NP_001269478.1:n.462+1G>C
NR_104212.2:n.1966+1G>C
NR_104215.2:n.1909+1G>C
NR_104216.2:n.1165+1G>C