Canonical Allele Identifier: CA350451086

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1784108
• ClinVar RCV Id: RCV002417045
• dbSNP Id: rs2105990379
• MyVariant Identifiers: chr2:g.215595137G>C (hg19) ; chr2:g.214730413G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730413G>C , CM000664.2:g.214730413G>C	GRCh38
NC_000002.11:g.215595137G>C , CM000664.1:g.215595137G>C	GRCh37
NC_000002.10:g.215303382G>C	NCBI36
NG_012047.2:g.84292C>G
NG_012047.3:g.84299C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1999C>G MANE Select	ENSP00000260947.4:p.Leu667Val
ENST00000421162.2:c.646C>G	ENSP00000392245.2:p.Leu216Val
ENST00000613192.2:c.*62C>G	ENSP00000483275.2:n.*62C>G
ENST00000613374.5:c.589C>G	ENSP00000484464.1:p.Leu197Val
ENST00000613706.5:c.1591C>G	ENSP00000484976.2:p.Leu531Val
ENST00000617164.5:c.1942C>G	ENSP00000480470.1:p.Leu648Val
ENST00000619009.5:c.460C>G	ENSP00000482293.1:p.Leu154Val
ENST00000650978.1:c.3374C>G
ENST00000260947.8:c.1999C>G	ENSP00000260947.4:p.Leu667Val
ENST00000421162.1:c.646C>G	ENSP00000392245.1:p.Leu216Val
ENST00000432456.5:c.96C>G
ENST00000455743.5:c.*1619C>G	ENSP00000412186.1:n.*1619C>G
ENST00000471590.5:n.334C>G
ENST00000613192.1:c.169C>G	ENSP00000483275.1:p.Leu57Val
ENST00000613374.4:c.589C>G	ENSP00000484464.1:p.Leu197Val
ENST00000613706.4:c.646C>G	ENSP00000484976.1:p.Leu216Val
ENST00000617164.4:c.1942C>G	ENSP00000480470.1:p.Leu648Val
ENST00000619009.4:c.460C>G	ENSP00000482293.1:p.Leu154Val
ENST00000620057.4:c.*665C>G	ENSP00000481988.1:n.*665C>G
NM_000465.3:c.1999C>G	NP_000456.2:p.Leu667Val
NM_001282543.1:c.1942C>G	NP_001269472.1:p.Leu648Val
NM_001282545.1:c.646C>G	NP_001269474.1:p.Leu216Val
NM_001282548.1:c.589C>G	NP_001269477.1:p.Leu197Val
NM_001282549.1:c.460C>G	NP_001269478.1:p.Leu154Val
NR_104212.1:n.1992C>G
NR_104215.1:n.1935C>G
NR_104216.1:n.1191C>G
XM_011511567.1:c.1945C>G	XP_011509869.1:p.Leu649Val
XM_017004613.1:c.2098C>G	XP_016860102.1:p.Leu700Val
XR_002959322.1:n.2189C>G
NM_000465.4:c.1999C>G MANE Select	NP_000456.2:p.Leu667Val
NM_001282543.2:c.1942C>G	NP_001269472.1:p.Leu648Val
NM_001282545.2:c.646C>G	NP_001269474.1:p.Leu216Val
NM_001282548.2:c.589C>G	NP_001269477.1:p.Leu197Val
NM_001282549.2:c.460C>G	NP_001269478.1:p.Leu154Val
NR_104212.2:n.1964C>G
NR_104215.2:n.1907C>G
NR_104216.2:n.1163C>G