Canonical Allele Identifier: CA331810

Gene: BARD1

Linked Data

• ClinVar Variation Id: 127712
• ClinVar RCV Id: RCV000115608 ; RCV000206115 ; RCV000235113
• dbSNP Id: rs201032007
• ExAC: 2:215645570 G / A
• gnomAD v2: 2-215645570-G-A
• gnomAD v3: 2-214780846-G-A
• gnomAD v4: 2-214780846-G-A
• MyVariant Identifiers: chr2:g.215645570G>A (hg19) ; chr2:g.214780846G>A (hg38)
• PubMed: PMID:26315354 ; PMID:27443514 ; PMID:28717660

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780846G>A , CM000664.2:g.214780846G>A	GRCh38
NC_000002.11:g.215645570G>A , CM000664.1:g.215645570G>A	GRCh37
NC_000002.10:g.215353815G>A	NCBI36
NG_012047.2:g.33859C>T
NG_012047.3:g.33866C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1028C>T MANE Select	ENSP00000260947.4:p.Thr343Ile
ENST00000421162.2:c.215+16215C>T	ENSP00000392245.2:n.215+16215C>T
ENST00000613192.2:c.158+28566C>T	ENSP00000483275.2:n.158+28566C>T
ENST00000613374.5:c.159-28291C>T	ENSP00000484464.1:n.159-28291C>T
ENST00000613706.5:c.906+122C>T	ENSP00000484976.2:n.906+122C>T
ENST00000617164.5:c.971C>T	ENSP00000480470.1:p.Thr324Ile
ENST00000619009.5:c.364+11451C>T	ENSP00000482293.1:n.364+11451C>T
ENST00000650978.1:c.870C>T
ENST00000260947.8:c.1028C>T	ENSP00000260947.4:p.Thr343Ile
ENST00000421162.1:c.215+16215C>T	ENSP00000392245.1:n.215+16215C>T
ENST00000455743.5:c.*648C>T	ENSP00000412186.1:n.*648C>T
ENST00000613192.1:c.73+28566C>T	ENSP00000483275.1:n.73+28566C>T
ENST00000613374.4:c.159-28291C>T	ENSP00000484464.1:n.159-28291C>T
ENST00000613706.4:c.215+16215C>T	ENSP00000484976.1:n.215+16215C>T
ENST00000617164.4:c.971C>T	ENSP00000480470.1:p.Thr324Ile
ENST00000619009.4:c.364+11451C>T	ENSP00000482293.1:n.364+11451C>T
ENST00000620057.4:c.364+11451C>T	ENSP00000481988.1:n.364+11451C>T
NM_000465.3:c.1028C>T	NP_000456.2:p.Thr343Ile
NM_001282543.1:c.971C>T	NP_001269472.1:p.Thr324Ile
NM_001282545.1:c.215+16215C>T	NP_001269474.1:n.215+16215C>T
NM_001282548.1:c.159-28291C>T	NP_001269477.1:n.159-28291C>T
NM_001282549.1:c.364+11451C>T	NP_001269478.1:n.364+11451C>T
NR_104212.1:n.1021C>T
NR_104215.1:n.964C>T
NR_104216.1:n.506+11451C>T
XM_011511567.1:c.974C>T	XP_011509869.1:p.Thr325Ile
XM_011511568.1:c.1028C>T	XP_011509870.1:p.Thr343Ile
XM_017004613.1:c.1127C>T	XP_016860102.1:p.Thr376Ile
XM_017004614.1:c.1127C>T	XP_016860103.1:p.Thr376Ile
XR_002959322.1:n.1218C>T
NM_000465.4:c.1028C>T MANE Select	NP_000456.2:p.Thr343Ile
NM_001282543.2:c.971C>T	NP_001269472.1:p.Thr324Ile
NM_001282545.2:c.215+16215C>T	NP_001269474.1:n.215+16215C>T
NM_001282548.2:c.159-28291C>T	NP_001269477.1:n.159-28291C>T
NM_001282549.2:c.364+11451C>T	NP_001269478.1:n.364+11451C>T
NR_104212.2:n.993C>T
NR_104215.2:n.936C>T
NR_104216.2:n.478+11451C>T