Canonical Allele Identifier: CA431392615

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215593484A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728760A>T , CM000664.2:g.214728760A>T	GRCh38
NC_000002.11:g.215593484A>T , CM000664.1:g.215593484A>T	GRCh37
NC_000002.10:g.215301729A>T	NCBI36
NG_012047.2:g.85945T>A
NG_012047.3:g.85952T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2250T>A MANE Select	ENSP00000260947.4:p.Val750=
ENST00000421162.2:c.897T>A	ENSP00000392245.2:p.Val299=
ENST00000613192.2:c.*313T>A	ENSP00000483275.2:n.*313T>A
ENST00000613374.5:c.840T>A	ENSP00000484464.1:p.Val280=
ENST00000613706.5:c.1842T>A	ENSP00000484976.2:p.Val614=
ENST00000617164.5:c.2193T>A	ENSP00000480470.1:p.Val731=
ENST00000619009.5:c.711T>A	ENSP00000482293.1:p.Val237=
ENST00000650978.1:c.3625T>A
ENST00000260947.8:c.2250T>A	ENSP00000260947.4:p.Val750=
ENST00000432456.5:c.393T>A
ENST00000455743.5:c.*1870T>A	ENSP00000412186.1:n.*1870T>A
ENST00000471590.5:n.585T>A
ENST00000613192.1:c.420T>A	ENSP00000483275.1:p.Val140=
ENST00000613374.4:c.840T>A	ENSP00000484464.1:p.Val280=
ENST00000613706.4:c.897T>A	ENSP00000484976.1:p.Val299=
ENST00000617164.4:c.2193T>A	ENSP00000480470.1:p.Val731=
ENST00000619009.4:c.711T>A	ENSP00000482293.1:p.Val237=
ENST00000620057.4:c.*916T>A	ENSP00000481988.1:n.*916T>A
NM_000465.3:c.2250T>A	NP_000456.2:p.Val750=
NM_001282543.1:c.2193T>A	NP_001269472.1:p.Val731=
NM_001282545.1:c.897T>A	NP_001269474.1:p.Val299=
NM_001282548.1:c.840T>A	NP_001269477.1:p.Val280=
NM_001282549.1:c.711T>A	NP_001269478.1:p.Val237=
NR_104212.1:n.2243T>A
NR_104215.1:n.2186T>A
NR_104216.1:n.1442T>A
XM_011511567.1:c.2196T>A	XP_011509869.1:p.Val732=
XM_017004613.1:c.2349T>A	XP_016860102.1:p.Val783=
XR_002959322.1:n.2616T>A
NM_000465.4:c.2250T>A MANE Select	NP_000456.2:p.Val750=
NM_001282543.2:c.2193T>A	NP_001269472.1:p.Val731=
NM_001282545.2:c.897T>A	NP_001269474.1:p.Val299=
NM_001282548.2:c.840T>A	NP_001269477.1:p.Val280=
NM_001282549.2:c.711T>A	NP_001269478.1:p.Val237=
NR_104212.2:n.2215T>A
NR_104215.2:n.2158T>A
NR_104216.2:n.1414T>A