Canonical Allele Identifier: CA539837318

Gene: BARD1

Linked Data

• dbSNP Id: rs1439900598
• gnomAD v2: 2-215645209-T-C
• gnomAD v3: 2-214780485-T-C
• gnomAD v4: 2-214780485-T-C
• MyVariant Identifiers: chr2:g.215645209T>C (hg19) ; chr2:g.214780485T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780485T>C , CM000664.2:g.214780485T>C	GRCh38
NC_000002.11:g.215645209T>C , CM000664.1:g.215645209T>C	GRCh37
NC_000002.10:g.215353454T>C	NCBI36
NG_012047.2:g.34220A>G
NG_012047.3:g.34227A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1314+75A>G MANE Select	ENSP00000260947.4:n.1314+75A>G
ENST00000421162.2:c.215+16576A>G	ENSP00000392245.2:n.215+16576A>G
ENST00000613192.2:c.158+28927A>G	ENSP00000483275.2:n.158+28927A>G
ENST00000613374.5:c.159-27930A>G	ENSP00000484464.1:n.159-27930A>G
ENST00000613706.5:c.906+483A>G	ENSP00000484976.2:n.906+483A>G
ENST00000617164.5:c.1257+75A>G	ENSP00000480470.1:n.1257+75A>G
ENST00000619009.5:c.364+11812A>G	ENSP00000482293.1:n.364+11812A>G
ENST00000650978.1:c.1156+75A>G
ENST00000260947.8:c.1314+75A>G	ENSP00000260947.4:n.1314+75A>G
ENST00000421162.1:c.215+16576A>G	ENSP00000392245.1:n.215+16576A>G
ENST00000455743.5:c.*934+75A>G	ENSP00000412186.1:n.*934+75A>G
ENST00000613192.1:c.73+28927A>G	ENSP00000483275.1:n.73+28927A>G
ENST00000613374.4:c.159-27930A>G	ENSP00000484464.1:n.159-27930A>G
ENST00000613706.4:c.215+16576A>G	ENSP00000484976.1:n.215+16576A>G
ENST00000617164.4:c.1257+75A>G	ENSP00000480470.1:n.1257+75A>G
ENST00000619009.4:c.364+11812A>G	ENSP00000482293.1:n.364+11812A>G
ENST00000620057.4:c.365-11173A>G	ENSP00000481988.1:n.365-11173A>G
NM_000465.3:c.1314+75A>G	NP_000456.2:n.1314+75A>G
NM_001282543.1:c.1257+75A>G	NP_001269472.1:n.1257+75A>G
NM_001282545.1:c.215+16576A>G	NP_001269474.1:n.215+16576A>G
NM_001282548.1:c.159-27930A>G	NP_001269477.1:n.159-27930A>G
NM_001282549.1:c.364+11812A>G	NP_001269478.1:n.364+11812A>G
NR_104212.1:n.1307+75A>G
NR_104215.1:n.1250+75A>G
NR_104216.1:n.507-11173A>G
XM_011511567.1:c.1260+75A>G	XP_011509869.1:n.1260+75A>G
XM_011511568.1:c.1314+75A>G	XP_011509870.1:n.1314+75A>G
XM_017004613.1:c.1413+75A>G	XP_016860102.1:n.1413+75A>G
XM_017004614.1:c.1413+75A>G	XP_016860103.1:n.1413+75A>G
XR_002959322.1:n.1504+75A>G
NM_000465.4:c.1314+75A>G MANE Select	NP_000456.2:n.1314+75A>G
NM_001282543.2:c.1257+75A>G	NP_001269472.1:n.1257+75A>G
NM_001282545.2:c.215+16576A>G	NP_001269474.1:n.215+16576A>G
NM_001282548.2:c.159-27930A>G	NP_001269477.1:n.159-27930A>G
NM_001282549.2:c.364+11812A>G	NP_001269478.1:n.364+11812A>G
NR_104212.2:n.1279+75A>G
NR_104215.2:n.1222+75A>G
NR_104216.2:n.479-11173A>G