Canonical Allele Identifier: CA16617455

Gene: BARD1

Linked Data

• ClinVar Variation Id: 421438
• ClinVar RCV Id: RCV000482533 ; RCV000549884 ; RCV000775784 ; RCV001193607
• dbSNP Id: rs199780731
• gnomAD v4: 2-214792428-C-G
• MyVariant Identifiers: chr2:g.215657152C>G (hg19) ; chr2:g.214792428C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792428C>G , CM000664.2:g.214792428C>G	GRCh38
NC_000002.11:g.215657152C>G , CM000664.1:g.215657152C>G	GRCh37
NC_000002.10:g.215365397C>G	NCBI36
NG_012047.2:g.22277G>C
NG_012047.3:g.22284G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.233G>C MANE Select	ENSP00000260947.4:p.Cys78Ser
ENST00000421162.2:c.215+4633G>C	ENSP00000392245.2:n.215+4633G>C
ENST00000613192.2:c.158+16984G>C	ENSP00000483275.2:n.158+16984G>C
ENST00000613374.5:c.158+16984G>C	ENSP00000484464.1:n.158+16984G>C
ENST00000613706.5:c.233G>C	ENSP00000484976.2:p.Cys78Ser
ENST00000617164.5:c.176G>C	ENSP00000480470.1:p.Cys59Ser
ENST00000619009.5:c.233G>C	ENSP00000482293.1:p.Cys78Ser
ENST00000650978.1:c.75G>C
ENST00000260947.8:c.233G>C	ENSP00000260947.4:p.Cys78Ser
ENST00000421162.1:c.215+4633G>C	ENSP00000392245.1:n.215+4633G>C
ENST00000455743.5:c.215+4633G>C	ENSP00000412186.1:n.215+4633G>C
ENST00000471787.1:n.260-10919G>C
ENST00000613192.1:c.73+16984G>C	ENSP00000483275.1:n.73+16984G>C
ENST00000613374.4:c.158+16984G>C	ENSP00000484464.1:n.158+16984G>C
ENST00000613706.4:c.215+4633G>C	ENSP00000484976.1:n.215+4633G>C
ENST00000617164.4:c.176G>C	ENSP00000480470.1:p.Cys59Ser
ENST00000619009.4:c.233G>C	ENSP00000482293.1:p.Cys78Ser
ENST00000620057.4:c.233G>C	ENSP00000481988.1:p.Cys78Ser
NM_000465.3:c.233G>C	NP_000456.2:p.Cys78Ser
NM_001282543.1:c.176G>C	NP_001269472.1:p.Cys59Ser
NM_001282545.1:c.215+4633G>C	NP_001269474.1:n.215+4633G>C
NM_001282548.1:c.158+16984G>C	NP_001269477.1:n.158+16984G>C
NM_001282549.1:c.233G>C	NP_001269478.1:p.Cys78Ser
NR_104212.1:n.357+4633G>C
NR_104215.1:n.301-10919G>C
NR_104216.1:n.375G>C
XM_011511567.1:c.179G>C	XP_011509869.1:p.Cys60Ser
XM_011511568.1:c.233G>C	XP_011509870.1:p.Cys78Ser
XM_017004613.1:c.332G>C	XP_016860102.1:p.Cys111Ser
XM_017004614.1:c.332G>C	XP_016860103.1:p.Cys111Ser
XR_002959322.1:n.423G>C
NM_000465.4:c.233G>C MANE Select	NP_000456.2:p.Cys78Ser
NM_001282543.2:c.176G>C	NP_001269472.1:p.Cys59Ser
NM_001282545.2:c.215+4633G>C	NP_001269474.1:n.215+4633G>C
NM_001282548.2:c.158+16984G>C	NP_001269477.1:n.158+16984G>C
NM_001282549.2:c.233G>C	NP_001269478.1:p.Cys78Ser
NR_104212.2:n.329+4633G>C
NR_104215.2:n.273-10919G>C
NR_104216.2:n.347G>C