Canonical Allele Identifier: CA350449992

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593485A>G (hg19) ; chr2:g.214728761A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728761A>G , CM000664.2:g.214728761A>G	GRCh38
NC_000002.11:g.215593485A>G , CM000664.1:g.215593485A>G	GRCh37
NC_000002.10:g.215301730A>G	NCBI36
NG_012047.2:g.85944T>C
NG_012047.3:g.85951T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2249T>C MANE Select	ENSP00000260947.4:p.Val750Ala
ENST00000421162.2:c.896T>C	ENSP00000392245.2:p.Val299Ala
ENST00000613192.2:c.*312T>C	ENSP00000483275.2:n.*312T>C
ENST00000613374.5:c.839T>C	ENSP00000484464.1:p.Val280Ala
ENST00000613706.5:c.1841T>C	ENSP00000484976.2:p.Val614Ala
ENST00000617164.5:c.2192T>C	ENSP00000480470.1:p.Val731Ala
ENST00000619009.5:c.710T>C	ENSP00000482293.1:p.Val237Ala
ENST00000650978.1:c.3624T>C
ENST00000260947.8:c.2249T>C	ENSP00000260947.4:p.Val750Ala
ENST00000432456.5:c.392T>C
ENST00000455743.5:c.*1869T>C	ENSP00000412186.1:n.*1869T>C
ENST00000471590.5:n.584T>C
ENST00000613192.1:c.419T>C	ENSP00000483275.1:p.Val140Ala
ENST00000613374.4:c.839T>C	ENSP00000484464.1:p.Val280Ala
ENST00000613706.4:c.896T>C	ENSP00000484976.1:p.Val299Ala
ENST00000617164.4:c.2192T>C	ENSP00000480470.1:p.Val731Ala
ENST00000619009.4:c.710T>C	ENSP00000482293.1:p.Val237Ala
ENST00000620057.4:c.*915T>C	ENSP00000481988.1:n.*915T>C
NM_000465.3:c.2249T>C	NP_000456.2:p.Val750Ala
NM_001282543.1:c.2192T>C	NP_001269472.1:p.Val731Ala
NM_001282545.1:c.896T>C	NP_001269474.1:p.Val299Ala
NM_001282548.1:c.839T>C	NP_001269477.1:p.Val280Ala
NM_001282549.1:c.710T>C	NP_001269478.1:p.Val237Ala
NR_104212.1:n.2242T>C
NR_104215.1:n.2185T>C
NR_104216.1:n.1441T>C
XM_011511567.1:c.2195T>C	XP_011509869.1:p.Val732Ala
XM_017004613.1:c.2348T>C	XP_016860102.1:p.Val783Ala
XR_002959322.1:n.2615T>C
NM_000465.4:c.2249T>C MANE Select	NP_000456.2:p.Val750Ala
NM_001282543.2:c.2192T>C	NP_001269472.1:p.Val731Ala
NM_001282545.2:c.896T>C	NP_001269474.1:p.Val299Ala
NM_001282548.2:c.839T>C	NP_001269477.1:p.Val280Ala
NM_001282549.2:c.710T>C	NP_001269478.1:p.Val237Ala
NR_104212.2:n.2214T>C
NR_104215.2:n.2157T>C
NR_104216.2:n.1413T>C