Canonical Allele Identifier: CA11044127

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1238160
• ClinVar RCV Id: RCV001638563
• dbSNP Id: rs59224723
• gnomAD v2: 2-215609570-T-C
• gnomAD v3: 2-214744846-T-C
• gnomAD v4: 2-214744846-T-C
• MyVariant Identifiers: chr2:g.215609570T>C (hg19) ; chr2:g.214744846T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214744846T>C , CM000664.2:g.214744846T>C	GRCh38
NC_000002.11:g.215609570T>C , CM000664.1:g.215609570T>C	GRCh37
NC_000002.10:g.215317815T>C	NCBI36
NG_012047.2:g.69859A>G
NG_012047.3:g.69866A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1903+221A>G MANE Select	ENSP00000260947.4:n.1903+221A>G
ENST00000421162.2:c.550+221A>G	ENSP00000392245.2:n.550+221A>G
ENST00000613192.2:c.159-14338A>G	ENSP00000483275.2:n.159-14338A>G
ENST00000613374.5:c.493+221A>G	ENSP00000484464.1:n.493+221A>G
ENST00000613706.5:c.1495+221A>G	ENSP00000484976.2:n.1495+221A>G
ENST00000617164.5:c.1846+221A>G	ENSP00000480470.1:n.1846+221A>G
ENST00000619009.5:c.365-14338A>G	ENSP00000482293.1:n.365-14338A>G
ENST00000650978.1:c.3278+221A>G
ENST00000260947.8:c.1903+221A>G	ENSP00000260947.4:n.1903+221A>G
ENST00000421162.1:c.550+221A>G	ENSP00000392245.1:n.550+221A>G
ENST00000455743.5:c.*1523+221A>G	ENSP00000412186.1:n.*1523+221A>G
ENST00000613192.1:c.74-14338A>G	ENSP00000483275.1:n.74-14338A>G
ENST00000613374.4:c.493+221A>G	ENSP00000484464.1:n.493+221A>G
ENST00000613706.4:c.550+221A>G	ENSP00000484976.1:n.550+221A>G
ENST00000617164.4:c.1846+221A>G	ENSP00000480470.1:n.1846+221A>G
ENST00000619009.4:c.365-14338A>G	ENSP00000482293.1:n.365-14338A>G
ENST00000620057.4:c.*569+221A>G	ENSP00000481988.1:n.*569+221A>G
NM_000465.3:c.1903+221A>G	NP_000456.2:n.1903+221A>G
NM_001282543.1:c.1846+221A>G	NP_001269472.1:n.1846+221A>G
NM_001282545.1:c.550+221A>G	NP_001269474.1:n.550+221A>G
NM_001282548.1:c.493+221A>G	NP_001269477.1:n.493+221A>G
NM_001282549.1:c.365-14338A>G	NP_001269478.1:n.365-14338A>G
NR_104212.1:n.1896+221A>G
NR_104215.1:n.1839+221A>G
NR_104216.1:n.1095+221A>G
XM_011511567.1:c.1849+221A>G	XP_011509869.1:n.1849+221A>G
XM_011511568.1:c.1903+221A>G	XP_011509870.1:n.1903+221A>G
XM_017004613.1:c.2002+221A>G	XP_016860102.1:n.2002+221A>G
XM_017004614.1:c.2002+221A>G	XP_016860103.1:n.2002+221A>G
XR_002959322.1:n.2093+221A>G
NM_000465.4:c.1903+221A>G MANE Select	NP_000456.2:n.1903+221A>G
NM_001282543.2:c.1846+221A>G	NP_001269472.1:n.1846+221A>G
NM_001282545.2:c.550+221A>G	NP_001269474.1:n.550+221A>G
NM_001282548.2:c.493+221A>G	NP_001269477.1:n.493+221A>G
NM_001282549.2:c.365-14338A>G	NP_001269478.1:n.365-14338A>G
NR_104212.2:n.1868+221A>G
NR_104215.2:n.1811+221A>G
NR_104216.2:n.1067+221A>G