Canonical Allele Identifier: CA350449967

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593471C>G (hg19) ; chr2:g.214728747C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728747C>G , CM000664.2:g.214728747C>G	GRCh38
NC_000002.11:g.215593471C>G , CM000664.1:g.215593471C>G	GRCh37
NC_000002.10:g.215301716C>G	NCBI36
NG_012047.2:g.85958G>C
NG_012047.3:g.85965G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2263G>C MANE Select	ENSP00000260947.4:p.Val755Leu
ENST00000421162.2:c.910G>C	ENSP00000392245.2:p.Val304Leu
ENST00000613192.2:c.*326G>C	ENSP00000483275.2:n.*326G>C
ENST00000613374.5:c.853G>C	ENSP00000484464.1:p.Val285Leu
ENST00000613706.5:c.1855G>C	ENSP00000484976.2:p.Val619Leu
ENST00000617164.5:c.2206G>C	ENSP00000480470.1:p.Val736Leu
ENST00000619009.5:c.724G>C	ENSP00000482293.1:p.Val242Leu
ENST00000650978.1:c.3638G>C
ENST00000260947.8:c.2263G>C	ENSP00000260947.4:p.Val755Leu
ENST00000432456.5:c.406G>C
ENST00000455743.5:c.*1883G>C	ENSP00000412186.1:n.*1883G>C
ENST00000471590.5:n.598G>C
ENST00000613192.1:c.433G>C	ENSP00000483275.1:p.Val145Leu
ENST00000613374.4:c.853G>C	ENSP00000484464.1:p.Val285Leu
ENST00000613706.4:c.910G>C	ENSP00000484976.1:p.Val304Leu
ENST00000617164.4:c.2206G>C	ENSP00000480470.1:p.Val736Leu
ENST00000619009.4:c.724G>C	ENSP00000482293.1:p.Val242Leu
ENST00000620057.4:c.*929G>C	ENSP00000481988.1:n.*929G>C
NM_000465.3:c.2263G>C	NP_000456.2:p.Val755Leu
NM_001282543.1:c.2206G>C	NP_001269472.1:p.Val736Leu
NM_001282545.1:c.910G>C	NP_001269474.1:p.Val304Leu
NM_001282548.1:c.853G>C	NP_001269477.1:p.Val285Leu
NM_001282549.1:c.724G>C	NP_001269478.1:p.Val242Leu
NR_104212.1:n.2256G>C
NR_104215.1:n.2199G>C
NR_104216.1:n.1455G>C
XM_011511567.1:c.2209G>C	XP_011509869.1:p.Val737Leu
XM_017004613.1:c.2362G>C	XP_016860102.1:p.Val788Leu
XR_002959322.1:n.2629G>C
NM_000465.4:c.2263G>C MANE Select	NP_000456.2:p.Val755Leu
NM_001282543.2:c.2206G>C	NP_001269472.1:p.Val736Leu
NM_001282545.2:c.910G>C	NP_001269474.1:p.Val304Leu
NM_001282548.2:c.853G>C	NP_001269477.1:p.Val285Leu
NM_001282549.2:c.724G>C	NP_001269478.1:p.Val242Leu
NR_104212.2:n.2228G>C
NR_104215.2:n.2171G>C
NR_104216.2:n.1427G>C