Canonical Allele Identifier: CA350450495

Gene: BARD1

Linked Data

• ClinVar Variation Id: 490955
• ClinVar RCV Id: RCV000581178 ; RCV003336065 ; RCV003320707
• dbSNP Id: rs1553612164
• gnomAD v4: 2-214728867-G-A
• MyVariant Identifiers: chr2:g.215593591G>A (hg19) ; chr2:g.214728867G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728867G>A , CM000664.2:g.214728867G>A	GRCh38
NC_000002.11:g.215593591G>A , CM000664.1:g.215593591G>A	GRCh37
NC_000002.10:g.215301836G>A	NCBI36
NG_012047.2:g.85838C>T
NG_012047.3:g.85845C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2143C>T MANE Select	ENSP00000260947.4:p.Gln715Ter
ENST00000421162.2:c.790C>T	ENSP00000392245.2:p.Gln264Ter
ENST00000613192.2:c.*206C>T	ENSP00000483275.2:n.*206C>T
ENST00000613374.5:c.733C>T	ENSP00000484464.1:p.Gln245Ter
ENST00000613706.5:c.1735C>T	ENSP00000484976.2:p.Gln579Ter
ENST00000617164.5:c.2086C>T	ENSP00000480470.1:p.Gln696Ter
ENST00000619009.5:c.604C>T	ENSP00000482293.1:p.Gln202Ter
ENST00000650978.1:c.3518C>T
ENST00000260947.8:c.2143C>T	ENSP00000260947.4:p.Gln715Ter
ENST00000432456.5:c.286C>T
ENST00000455743.5:c.*1763C>T	ENSP00000412186.1:n.*1763C>T
ENST00000471590.5:n.478C>T
ENST00000613192.1:c.313C>T	ENSP00000483275.1:p.Gln105Ter
ENST00000613374.4:c.733C>T	ENSP00000484464.1:p.Gln245Ter
ENST00000613706.4:c.790C>T	ENSP00000484976.1:p.Gln264Ter
ENST00000617164.4:c.2086C>T	ENSP00000480470.1:p.Gln696Ter
ENST00000619009.4:c.604C>T	ENSP00000482293.1:p.Gln202Ter
ENST00000620057.4:c.*809C>T	ENSP00000481988.1:n.*809C>T
NM_000465.3:c.2143C>T	NP_000456.2:p.Gln715Ter
NM_001282543.1:c.2086C>T	NP_001269472.1:p.Gln696Ter
NM_001282545.1:c.790C>T	NP_001269474.1:p.Gln264Ter
NM_001282548.1:c.733C>T	NP_001269477.1:p.Gln245Ter
NM_001282549.1:c.604C>T	NP_001269478.1:p.Gln202Ter
NR_104212.1:n.2136C>T
NR_104215.1:n.2079C>T
NR_104216.1:n.1335C>T
XM_011511567.1:c.2089C>T	XP_011509869.1:p.Gln697Ter
XM_017004613.1:c.2242C>T	XP_016860102.1:p.Gln748Ter
XR_002959322.1:n.2509C>T
NM_000465.4:c.2143C>T MANE Select	NP_000456.2:p.Gln715Ter
NM_001282543.2:c.2086C>T	NP_001269472.1:p.Gln696Ter
NM_001282545.2:c.790C>T	NP_001269474.1:p.Gln264Ter
NM_001282548.2:c.733C>T	NP_001269477.1:p.Gln245Ter
NM_001282549.2:c.604C>T	NP_001269478.1:p.Gln202Ter
NR_104212.2:n.2108C>T
NR_104215.2:n.2051C>T
NR_104216.2:n.1307C>T