Canonical Allele Identifier: CA350449996

Gene: BARD1

Linked Data

• ClinVar Variation Id: 479128
• ClinVar RCV Id: RCV000568220
• dbSNP Id: rs34677017
• MyVariant Identifiers: chr2:g.215593486C>G (hg19) ; chr2:g.214728762C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728762C>G , CM000664.2:g.214728762C>G	GRCh38
NC_000002.11:g.215593486C>G , CM000664.1:g.215593486C>G	GRCh37
NC_000002.10:g.215301731C>G	NCBI36
NG_012047.2:g.85943G>C
NG_012047.3:g.85950G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2248G>C MANE Select	ENSP00000260947.4:p.Val750Leu
ENST00000421162.2:c.895G>C	ENSP00000392245.2:p.Val299Leu
ENST00000613192.2:c.*311G>C	ENSP00000483275.2:n.*311G>C
ENST00000613374.5:c.838G>C	ENSP00000484464.1:p.Val280Leu
ENST00000613706.5:c.1840G>C	ENSP00000484976.2:p.Val614Leu
ENST00000617164.5:c.2191G>C	ENSP00000480470.1:p.Val731Leu
ENST00000619009.5:c.709G>C	ENSP00000482293.1:p.Val237Leu
ENST00000650978.1:c.3623G>C
ENST00000260947.8:c.2248G>C	ENSP00000260947.4:p.Val750Leu
ENST00000432456.5:c.391G>C
ENST00000455743.5:c.*1868G>C	ENSP00000412186.1:n.*1868G>C
ENST00000471590.5:n.583G>C
ENST00000613192.1:c.418G>C	ENSP00000483275.1:p.Val140Leu
ENST00000613374.4:c.838G>C	ENSP00000484464.1:p.Val280Leu
ENST00000613706.4:c.895G>C	ENSP00000484976.1:p.Val299Leu
ENST00000617164.4:c.2191G>C	ENSP00000480470.1:p.Val731Leu
ENST00000619009.4:c.709G>C	ENSP00000482293.1:p.Val237Leu
ENST00000620057.4:c.*914G>C	ENSP00000481988.1:n.*914G>C
NM_000465.3:c.2248G>C	NP_000456.2:p.Val750Leu
NM_001282543.1:c.2191G>C	NP_001269472.1:p.Val731Leu
NM_001282545.1:c.895G>C	NP_001269474.1:p.Val299Leu
NM_001282548.1:c.838G>C	NP_001269477.1:p.Val280Leu
NM_001282549.1:c.709G>C	NP_001269478.1:p.Val237Leu
NR_104212.1:n.2241G>C
NR_104215.1:n.2184G>C
NR_104216.1:n.1440G>C
XM_011511567.1:c.2194G>C	XP_011509869.1:p.Val732Leu
XM_017004613.1:c.2347G>C	XP_016860102.1:p.Val783Leu
XR_002959322.1:n.2614G>C
NM_000465.4:c.2248G>C MANE Select	NP_000456.2:p.Val750Leu
NM_001282543.2:c.2191G>C	NP_001269472.1:p.Val731Leu
NM_001282545.2:c.895G>C	NP_001269474.1:p.Val299Leu
NM_001282548.2:c.838G>C	NP_001269477.1:p.Val280Leu
NM_001282549.2:c.709G>C	NP_001269478.1:p.Val237Leu
NR_104212.2:n.2213G>C
NR_104215.2:n.2156G>C
NR_104216.2:n.1412G>C