Canonical Allele Identifier: CA350452373

Gene: BARD1

Linked Data

• ClinVar Variation Id: 958493
• ClinVar RCV Id: RCV001231671 ; RCV003294103
• dbSNP Id: rs752292843
• MyVariant Identifiers: chr2:g.215609880G>A (hg19) ; chr2:g.214745156G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745156G>A , CM000664.2:g.214745156G>A	GRCh38
NC_000002.11:g.215609880G>A , CM000664.1:g.215609880G>A	GRCh37
NC_000002.10:g.215318125G>A	NCBI36
NG_012047.2:g.69549C>T
NG_012047.3:g.69556C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1814C>T MANE Select	ENSP00000260947.4:p.Thr605Ile
ENST00000421162.2:c.461C>T	ENSP00000392245.2:p.Thr154Ile
ENST00000613192.2:c.159-14648C>T	ENSP00000483275.2:n.159-14648C>T
ENST00000613374.5:c.404C>T	ENSP00000484464.1:p.Thr135Ile
ENST00000613706.5:c.1406C>T	ENSP00000484976.2:p.Thr469Ile
ENST00000617164.5:c.1757C>T	ENSP00000480470.1:p.Thr586Ile
ENST00000619009.5:c.365-14648C>T	ENSP00000482293.1:n.365-14648C>T
ENST00000650978.1:c.3189C>T
ENST00000260947.8:c.1814C>T	ENSP00000260947.4:p.Thr605Ile
ENST00000421162.1:c.461C>T	ENSP00000392245.1:p.Thr154Ile
ENST00000455743.5:c.*1434C>T	ENSP00000412186.1:n.*1434C>T
ENST00000613192.1:c.74-14648C>T	ENSP00000483275.1:n.74-14648C>T
ENST00000613374.4:c.404C>T	ENSP00000484464.1:p.Thr135Ile
ENST00000613706.4:c.461C>T	ENSP00000484976.1:p.Thr154Ile
ENST00000617164.4:c.1757C>T	ENSP00000480470.1:p.Thr586Ile
ENST00000619009.4:c.365-14648C>T	ENSP00000482293.1:n.365-14648C>T
ENST00000620057.4:c.*480C>T	ENSP00000481988.1:n.*480C>T
NM_000465.3:c.1814C>T	NP_000456.2:p.Thr605Ile
NM_001282543.1:c.1757C>T	NP_001269472.1:p.Thr586Ile
NM_001282545.1:c.461C>T	NP_001269474.1:p.Thr154Ile
NM_001282548.1:c.404C>T	NP_001269477.1:p.Thr135Ile
NM_001282549.1:c.365-14648C>T	NP_001269478.1:n.365-14648C>T
NR_104212.1:n.1807C>T
NR_104215.1:n.1750C>T
NR_104216.1:n.1006C>T
XM_011511567.1:c.1760C>T	XP_011509869.1:p.Thr587Ile
XM_011511568.1:c.1814C>T	XP_011509870.1:p.Thr605Ile
XM_017004613.1:c.1913C>T	XP_016860102.1:p.Thr638Ile
XM_017004614.1:c.1913C>T	XP_016860103.1:p.Thr638Ile
XR_002959322.1:n.2004C>T
NM_000465.4:c.1814C>T MANE Select	NP_000456.2:p.Thr605Ile
NM_001282543.2:c.1757C>T	NP_001269472.1:p.Thr586Ile
NM_001282545.2:c.461C>T	NP_001269474.1:p.Thr154Ile
NM_001282548.2:c.404C>T	NP_001269477.1:p.Thr135Ile
NM_001282549.2:c.365-14648C>T	NP_001269478.1:n.365-14648C>T
NR_104212.2:n.1779C>T
NR_104215.2:n.1722C>T
NR_104216.2:n.978C>T