Canonical Allele Identifier: CA431392609

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1657309
• ClinVar RCV Id: RCV002164351
• dbSNP Id: rs13389324
• gnomAD v2: 2-215593469-G-T
• gnomAD v3: 2-214728745-G-T
• gnomAD v4: 2-214728745-G-T
• MyVariant Identifiers: chr2:g.215593469G>T (hg19) ; chr2:g.214728745G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728745G>T , CM000664.2:g.214728745G>T	GRCh38
NC_000002.11:g.215593469G>T , CM000664.1:g.215593469G>T	GRCh37
NC_000002.10:g.215301714G>T	NCBI36
NG_012047.2:g.85960C>A
NG_012047.3:g.85967C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2265C>A MANE Select	ENSP00000260947.4:p.Val755=
ENST00000421162.2:c.912C>A	ENSP00000392245.2:p.Val304=
ENST00000613192.2:c.*328C>A	ENSP00000483275.2:n.*328C>A
ENST00000613374.5:c.855C>A	ENSP00000484464.1:p.Val285=
ENST00000613706.5:c.1857C>A	ENSP00000484976.2:p.Val619=
ENST00000617164.5:c.2208C>A	ENSP00000480470.1:p.Val736=
ENST00000619009.5:c.726C>A	ENSP00000482293.1:p.Val242=
ENST00000650978.1:c.3640C>A
ENST00000260947.8:c.2265C>A	ENSP00000260947.4:p.Val755=
ENST00000432456.5:c.408C>A
ENST00000455743.5:c.*1885C>A	ENSP00000412186.1:n.*1885C>A
ENST00000471590.5:n.600C>A
ENST00000613192.1:c.435C>A	ENSP00000483275.1:p.Val145=
ENST00000613374.4:c.855C>A	ENSP00000484464.1:p.Val285=
ENST00000613706.4:c.912C>A	ENSP00000484976.1:p.Val304=
ENST00000617164.4:c.2208C>A	ENSP00000480470.1:p.Val736=
ENST00000619009.4:c.726C>A	ENSP00000482293.1:p.Val242=
ENST00000620057.4:c.*931C>A	ENSP00000481988.1:n.*931C>A
NM_000465.3:c.2265C>A	NP_000456.2:p.Val755=
NM_001282543.1:c.2208C>A	NP_001269472.1:p.Val736=
NM_001282545.1:c.912C>A	NP_001269474.1:p.Val304=
NM_001282548.1:c.855C>A	NP_001269477.1:p.Val285=
NM_001282549.1:c.726C>A	NP_001269478.1:p.Val242=
NR_104212.1:n.2258C>A
NR_104215.1:n.2201C>A
NR_104216.1:n.1457C>A
XM_011511567.1:c.2211C>A	XP_011509869.1:p.Val737=
XM_017004613.1:c.2364C>A	XP_016860102.1:p.Val788=
XR_002959322.1:n.2631C>A
NM_000465.4:c.2265C>A MANE Select	NP_000456.2:p.Val755=
NM_001282543.2:c.2208C>A	NP_001269472.1:p.Val736=
NM_001282545.2:c.912C>A	NP_001269474.1:p.Val304=
NM_001282548.2:c.855C>A	NP_001269477.1:p.Val285=
NM_001282549.2:c.726C>A	NP_001269478.1:p.Val242=
NR_104212.2:n.2230C>A
NR_104215.2:n.2173C>A
NR_104216.2:n.1429C>A