Canonical Allele Identifier: CA350449597

Gene: BARD1

Linked Data

• ClinVar Variation Id: 919193
• ClinVar RCV Id: RCV001177205
• dbSNP Id: rs1692188075
• gnomAD v4: 2-214728676-T-C
• MyVariant Identifiers: chr2:g.215593400T>C (hg19) ; chr2:g.214728676T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728676T>C , CM000664.2:g.214728676T>C	GRCh38
NC_000002.11:g.215593400T>C , CM000664.1:g.215593400T>C	GRCh37
NC_000002.10:g.215301645T>C	NCBI36
NG_012047.2:g.86029A>G
NG_012047.3:g.86036A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2334A>G MANE Select	ENSP00000260947.4:p.Ter778Trp
ENST00000421162.2:c.981A>G	ENSP00000392245.2:p.Ter327Trp
ENST00000613192.2:c.*397A>G	ENSP00000483275.2:n.*397A>G
ENST00000613374.5:c.924A>G	ENSP00000484464.1:p.Ter308Trp
ENST00000613706.5:c.1926A>G	ENSP00000484976.2:p.Ter642Trp
ENST00000617164.5:c.2277A>G	ENSP00000480470.1:p.Ter759Trp
ENST00000619009.5:c.795A>G	ENSP00000482293.1:p.Ter265Trp
ENST00000650978.1:c.3709A>G
ENST00000260947.8:c.2334A>G	ENSP00000260947.4:p.Ter778Trp
ENST00000432456.5:c.477A>G
ENST00000471590.5:n.669A>G
ENST00000613192.1:c.504A>G	ENSP00000483275.1:p.Ter168Trp
ENST00000613374.4:c.924A>G	ENSP00000484464.1:p.Ter308Trp
ENST00000613706.4:c.981A>G	ENSP00000484976.1:p.Ter327Trp
ENST00000617164.4:c.2277A>G	ENSP00000480470.1:p.Ter759Trp
ENST00000619009.4:c.795A>G	ENSP00000482293.1:p.Ter265Trp
NM_000465.3:c.2334A>G	NP_000456.2:p.Ter778Trp
NM_001282543.1:c.2277A>G	NP_001269472.1:p.Ter759Trp
NM_001282545.1:c.981A>G	NP_001269474.1:p.Ter327Trp
NM_001282548.1:c.924A>G	NP_001269477.1:p.Ter308Trp
NM_001282549.1:c.795A>G	NP_001269478.1:p.Ter265Trp
NR_104212.1:n.2327A>G
NR_104215.1:n.2270A>G
NR_104216.1:n.1526A>G
XM_011511567.1:c.2280A>G	XP_011509869.1:p.Ter760Trp
XM_017004613.1:c.2433A>G	XP_016860102.1:p.Ter811Trp
XR_002959322.1:n.2700A>G
NM_000465.4:c.2334A>G MANE Select	NP_000456.2:p.Ter778Trp
NM_001282543.2:c.2277A>G	NP_001269472.1:p.Ter759Trp
NM_001282545.2:c.981A>G	NP_001269474.1:p.Ter327Trp
NM_001282548.2:c.924A>G	NP_001269477.1:p.Ter308Trp
NM_001282549.2:c.795A>G	NP_001269478.1:p.Ter265Trp
NR_104212.2:n.2299A>G
NR_104215.2:n.2242A>G
NR_104216.2:n.1498A>G