Canonical Allele Identifier: CA350449804

Gene: BARD1

Linked Data

• ClinVar Variation Id: 479124
• ClinVar RCV Id: RCV000570902 ; RCV001215604
• dbSNP Id: rs1434753563
• gnomAD v4: 2-214728711-C-A
• MyVariant Identifiers: chr2:g.215593435C>A (hg19) ; chr2:g.214728711C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728711C>A , CM000664.2:g.214728711C>A	GRCh38
NC_000002.11:g.215593435C>A , CM000664.1:g.215593435C>A	GRCh37
NC_000002.10:g.215301680C>A	NCBI36
NG_012047.2:g.85994G>T
NG_012047.3:g.86001G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2299G>T MANE Select	ENSP00000260947.4:p.Val767Leu
ENST00000421162.2:c.946G>T	ENSP00000392245.2:p.Val316Leu
ENST00000613192.2:c.*362G>T	ENSP00000483275.2:n.*362G>T
ENST00000613374.5:c.889G>T	ENSP00000484464.1:p.Val297Leu
ENST00000613706.5:c.1891G>T	ENSP00000484976.2:p.Val631Leu
ENST00000617164.5:c.2242G>T	ENSP00000480470.1:p.Val748Leu
ENST00000619009.5:c.760G>T	ENSP00000482293.1:p.Val254Leu
ENST00000650978.1:c.3674G>T
ENST00000260947.8:c.2299G>T	ENSP00000260947.4:p.Val767Leu
ENST00000432456.5:c.442G>T
ENST00000455743.5:c.*1919G>T	ENSP00000412186.1:n.*1919G>T
ENST00000471590.5:n.634G>T
ENST00000613192.1:c.469G>T	ENSP00000483275.1:p.Val157Leu
ENST00000613374.4:c.889G>T	ENSP00000484464.1:p.Val297Leu
ENST00000613706.4:c.946G>T	ENSP00000484976.1:p.Val316Leu
ENST00000617164.4:c.2242G>T	ENSP00000480470.1:p.Val748Leu
ENST00000619009.4:c.760G>T	ENSP00000482293.1:p.Val254Leu
ENST00000620057.4:c.*965G>T	ENSP00000481988.1:n.*965G>T
NM_000465.3:c.2299G>T	NP_000456.2:p.Val767Leu
NM_001282543.1:c.2242G>T	NP_001269472.1:p.Val748Leu
NM_001282545.1:c.946G>T	NP_001269474.1:p.Val316Leu
NM_001282548.1:c.889G>T	NP_001269477.1:p.Val297Leu
NM_001282549.1:c.760G>T	NP_001269478.1:p.Val254Leu
NR_104212.1:n.2292G>T
NR_104215.1:n.2235G>T
NR_104216.1:n.1491G>T
XM_011511567.1:c.2245G>T	XP_011509869.1:p.Val749Leu
XM_017004613.1:c.2398G>T	XP_016860102.1:p.Val800Leu
XR_002959322.1:n.2665G>T
NM_000465.4:c.2299G>T MANE Select	NP_000456.2:p.Val767Leu
NM_001282543.2:c.2242G>T	NP_001269472.1:p.Val748Leu
NM_001282545.2:c.946G>T	NP_001269474.1:p.Val316Leu
NM_001282548.2:c.889G>T	NP_001269477.1:p.Val297Leu
NM_001282549.2:c.760G>T	NP_001269478.1:p.Val254Leu
NR_104212.2:n.2264G>T
NR_104215.2:n.2207G>T
NR_104216.2:n.1463G>T