Canonical Allele Identifier: CA431391728

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1765224
• ClinVar RCV Id: RCV002449884
• MyVariant Identifiers: chr2:g.215645704C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780980C>T , CM000664.2:g.214780980C>T	GRCh38
NC_000002.11:g.215645704C>T , CM000664.1:g.215645704C>T	GRCh37
NC_000002.10:g.215353949C>T	NCBI36
NG_012047.2:g.33725G>A
NG_012047.3:g.33732G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.894G>A MANE Select	ENSP00000260947.4:p.Val298=
ENST00000421162.2:c.215+16081G>A	ENSP00000392245.2:n.215+16081G>A
ENST00000613192.2:c.158+28432G>A	ENSP00000483275.2:n.158+28432G>A
ENST00000613374.5:c.159-28425G>A	ENSP00000484464.1:n.159-28425G>A
ENST00000613706.5:c.894G>A	ENSP00000484976.2:p.Val298=
ENST00000617164.5:c.837G>A	ENSP00000480470.1:p.Val279=
ENST00000619009.5:c.364+11317G>A	ENSP00000482293.1:n.364+11317G>A
ENST00000650978.1:c.736G>A
ENST00000260947.8:c.894G>A	ENSP00000260947.4:p.Val298=
ENST00000421162.1:c.215+16081G>A	ENSP00000392245.1:n.215+16081G>A
ENST00000455743.5:c.*514G>A	ENSP00000412186.1:n.*514G>A
ENST00000471787.1:n.789G>A
ENST00000613192.1:c.73+28432G>A	ENSP00000483275.1:n.73+28432G>A
ENST00000613374.4:c.159-28425G>A	ENSP00000484464.1:n.159-28425G>A
ENST00000613706.4:c.215+16081G>A	ENSP00000484976.1:n.215+16081G>A
ENST00000617164.4:c.837G>A	ENSP00000480470.1:p.Val279=
ENST00000619009.4:c.364+11317G>A	ENSP00000482293.1:n.364+11317G>A
ENST00000620057.4:c.364+11317G>A	ENSP00000481988.1:n.364+11317G>A
NM_000465.3:c.894G>A	NP_000456.2:p.Val298=
NM_001282543.1:c.837G>A	NP_001269472.1:p.Val279=
NM_001282545.1:c.215+16081G>A	NP_001269474.1:n.215+16081G>A
NM_001282548.1:c.159-28425G>A	NP_001269477.1:n.159-28425G>A
NM_001282549.1:c.364+11317G>A	NP_001269478.1:n.364+11317G>A
NR_104212.1:n.887G>A
NR_104215.1:n.830G>A
NR_104216.1:n.506+11317G>A
XM_011511567.1:c.840G>A	XP_011509869.1:p.Val280=
XM_011511568.1:c.894G>A	XP_011509870.1:p.Val298=
XM_017004613.1:c.993G>A	XP_016860102.1:p.Val331=
XM_017004614.1:c.993G>A	XP_016860103.1:p.Val331=
XR_002959322.1:n.1084G>A
NM_000465.4:c.894G>A MANE Select	NP_000456.2:p.Val298=
NM_001282543.2:c.837G>A	NP_001269472.1:p.Val279=
NM_001282545.2:c.215+16081G>A	NP_001269474.1:n.215+16081G>A
NM_001282548.2:c.159-28425G>A	NP_001269477.1:n.159-28425G>A
NM_001282549.2:c.364+11317G>A	NP_001269478.1:n.364+11317G>A
NR_104212.2:n.859G>A
NR_104215.2:n.802G>A
NR_104216.2:n.478+11317G>A