Canonical Allele Identifier: CA350452051

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1713240
• ClinVar RCV Id: RCV002409638 ; RCV003156035
• MyVariant Identifiers: chr2:g.215609794C>A (hg19) ; chr2:g.214745070C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745070C>A , CM000664.2:g.214745070C>A	GRCh38
NC_000002.11:g.215609794C>A , CM000664.1:g.215609794C>A	GRCh37
NC_000002.10:g.215318039C>A	NCBI36
NG_012047.2:g.69635G>T
NG_012047.3:g.69642G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1900G>T MANE Select	ENSP00000260947.4:p.Glu634Ter
ENST00000421162.2:c.547G>T	ENSP00000392245.2:p.Glu183Ter
ENST00000613192.2:c.159-14562G>T	ENSP00000483275.2:n.159-14562G>T
ENST00000613374.5:c.490G>T	ENSP00000484464.1:p.Glu164Ter
ENST00000613706.5:c.1492G>T	ENSP00000484976.2:p.Glu498Ter
ENST00000617164.5:c.1843G>T	ENSP00000480470.1:p.Glu615Ter
ENST00000619009.5:c.365-14562G>T	ENSP00000482293.1:n.365-14562G>T
ENST00000650978.1:c.3275G>T
ENST00000260947.8:c.1900G>T	ENSP00000260947.4:p.Glu634Ter
ENST00000421162.1:c.547G>T	ENSP00000392245.1:p.Glu183Ter
ENST00000455743.5:c.*1520G>T	ENSP00000412186.1:n.*1520G>T
ENST00000613192.1:c.74-14562G>T	ENSP00000483275.1:n.74-14562G>T
ENST00000613374.4:c.490G>T	ENSP00000484464.1:p.Glu164Ter
ENST00000613706.4:c.547G>T	ENSP00000484976.1:p.Glu183Ter
ENST00000617164.4:c.1843G>T	ENSP00000480470.1:p.Glu615Ter
ENST00000619009.4:c.365-14562G>T	ENSP00000482293.1:n.365-14562G>T
ENST00000620057.4:c.*566G>T	ENSP00000481988.1:n.*566G>T
NM_000465.3:c.1900G>T	NP_000456.2:p.Glu634Ter
NM_001282543.1:c.1843G>T	NP_001269472.1:p.Glu615Ter
NM_001282545.1:c.547G>T	NP_001269474.1:p.Glu183Ter
NM_001282548.1:c.490G>T	NP_001269477.1:p.Glu164Ter
NM_001282549.1:c.365-14562G>T	NP_001269478.1:n.365-14562G>T
NR_104212.1:n.1893G>T
NR_104215.1:n.1836G>T
NR_104216.1:n.1092G>T
XM_011511567.1:c.1846G>T	XP_011509869.1:p.Glu616Ter
XM_011511568.1:c.1900G>T	XP_011509870.1:p.Glu634Ter
XM_017004613.1:c.1999G>T	XP_016860102.1:p.Glu667Ter
XM_017004614.1:c.1999G>T	XP_016860103.1:p.Glu667Ter
XR_002959322.1:n.2090G>T
NM_000465.4:c.1900G>T MANE Select	NP_000456.2:p.Glu634Ter
NM_001282543.2:c.1843G>T	NP_001269472.1:p.Glu615Ter
NM_001282545.2:c.547G>T	NP_001269474.1:p.Glu183Ter
NM_001282548.2:c.490G>T	NP_001269477.1:p.Glu164Ter
NM_001282549.2:c.365-14562G>T	NP_001269478.1:n.365-14562G>T
NR_104212.2:n.1865G>T
NR_104215.2:n.1808G>T
NR_104216.2:n.1064G>T