Canonical Allele Identifier: CA2090048

Gene: BARD1

Linked Data

• ClinVar Variation Id: 231736
• ClinVar RCV Id: RCV000214101 ; RCV000421801
• dbSNP Id: rs776958611
• ExAC: 2:215593401 C / T
• gnomAD v2: 2-215593401-C-T
• gnomAD v4: 2-214728677-C-T
• MyVariant Identifiers: chr2:g.215593401C>T (hg19) ; chr2:g.214728677C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728677C>T , CM000664.2:g.214728677C>T	GRCh38
NC_000002.11:g.215593401C>T , CM000664.1:g.215593401C>T	GRCh37
NC_000002.10:g.215301646C>T	NCBI36
NG_012047.2:g.86028G>A
NG_012047.3:g.86035G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2333G>A MANE Select	ENSP00000260947.4:p.Ter778=
ENST00000421162.2:c.980G>A	ENSP00000392245.2:p.Ter327=
ENST00000613192.2:c.*396G>A	ENSP00000483275.2:n.*396G>A
ENST00000613374.5:c.923G>A	ENSP00000484464.1:p.Ter308=
ENST00000613706.5:c.1925G>A	ENSP00000484976.2:p.Ter642=
ENST00000617164.5:c.2276G>A	ENSP00000480470.1:p.Ter759=
ENST00000619009.5:c.794G>A	ENSP00000482293.1:p.Ter265=
ENST00000650978.1:c.3708G>A
ENST00000260947.8:c.2333G>A	ENSP00000260947.4:p.Ter778=
ENST00000432456.5:c.476G>A
ENST00000471590.5:n.668G>A
ENST00000613192.1:c.503G>A	ENSP00000483275.1:p.Ter168=
ENST00000613374.4:c.923G>A	ENSP00000484464.1:p.Ter308=
ENST00000613706.4:c.980G>A	ENSP00000484976.1:p.Ter327=
ENST00000617164.4:c.2276G>A	ENSP00000480470.1:p.Ter759=
ENST00000619009.4:c.794G>A	ENSP00000482293.1:p.Ter265=
ENST00000620057.4:c.*999G>A	ENSP00000481988.1:n.*999G>A
NM_000465.3:c.2333G>A	NP_000456.2:p.Ter778=
NM_001282543.1:c.2276G>A	NP_001269472.1:p.Ter759=
NM_001282545.1:c.980G>A	NP_001269474.1:p.Ter327=
NM_001282548.1:c.923G>A	NP_001269477.1:p.Ter308=
NM_001282549.1:c.794G>A	NP_001269478.1:p.Ter265=
NR_104212.1:n.2326G>A
NR_104215.1:n.2269G>A
NR_104216.1:n.1525G>A
XM_011511567.1:c.2279G>A	XP_011509869.1:p.Ter760=
XM_017004613.1:c.2432G>A	XP_016860102.1:p.Ter811=
XR_002959322.1:n.2699G>A
NM_000465.4:c.2333G>A MANE Select	NP_000456.2:p.Ter778=
NM_001282543.2:c.2276G>A	NP_001269472.1:p.Ter759=
NM_001282545.2:c.980G>A	NP_001269474.1:p.Ter327=
NM_001282548.2:c.923G>A	NP_001269477.1:p.Ter308=
NM_001282549.2:c.794G>A	NP_001269478.1:p.Ter265=
NR_104212.2:n.2298G>A
NR_104215.2:n.2241G>A
NR_104216.2:n.1497G>A