Canonical Allele Identifier: CA2090040

Gene: BARD1

Linked Data

• ClinVar Variation Id: 894881
• ClinVar RCV Id: RCV001136661
• dbSNP Id: rs751500588
• ExAC: 2:215593362 G / A
• gnomAD v2: 2-215593362-G-A
• gnomAD v3: 2-214728638-G-A
• gnomAD v4: 2-214728638-G-A
• MyVariant Identifiers: chr2:g.215593362G>A (hg19) ; chr2:g.214728638G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728638G>A , CM000664.2:g.214728638G>A	GRCh38
NC_000002.11:g.215593362G>A , CM000664.1:g.215593362G>A	GRCh37
NC_000002.10:g.215301607G>A	NCBI36
NG_012047.2:g.86067C>T
NG_012047.3:g.86074C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*38C>T MANE Select	ENSP00000260947.4:n.*38C>T
ENST00000613374.5:c.*38C>T	ENSP00000484464.1:n.*38C>T
ENST00000613706.5:c.*38C>T	ENSP00000484976.2:n.*38C>T
ENST00000617164.5:c.*38C>T	ENSP00000480470.1:n.*38C>T
ENST00000619009.5:c.*38C>T	ENSP00000482293.1:n.*38C>T
ENST00000650978.1:c.3747C>T
ENST00000260947.8:c.*38C>T	ENSP00000260947.4:n.*38C>T
ENST00000432456.5:c.515C>T
ENST00000471590.5:n.707C>T
ENST00000613374.4:c.*38C>T	ENSP00000484464.1:n.*38C>T
ENST00000613706.4:c.*38C>T	ENSP00000484976.1:n.*38C>T
ENST00000617164.4:c.*38C>T	ENSP00000480470.1:n.*38C>T
ENST00000619009.4:c.*38C>T	ENSP00000482293.1:n.*38C>T
NM_000465.3:c.*38C>T	NP_000456.2:n.*38C>T
NM_001282543.1:c.*38C>T	NP_001269472.1:n.*38C>T
NM_001282545.1:c.*38C>T	NP_001269474.1:n.*38C>T
NM_001282548.1:c.*38C>T	NP_001269477.1:n.*38C>T
NM_001282549.1:c.*38C>T	NP_001269478.1:n.*38C>T
NR_104212.1:n.2365C>T
NR_104215.1:n.2308C>T
NR_104216.1:n.1564C>T
XM_011511567.1:c.*38C>T	XP_011509869.1:n.*38C>T
XM_017004613.1:c.*38C>T	XP_016860102.1:n.*38C>T
XR_002959322.1:n.2738C>T
NM_000465.4:c.*38C>T MANE Select	NP_000456.2:n.*38C>T
NM_001282543.2:c.*38C>T	NP_001269472.1:n.*38C>T
NM_001282545.2:c.*38C>T	NP_001269474.1:n.*38C>T
NM_001282548.2:c.*38C>T	NP_001269477.1:n.*38C>T
NM_001282549.2:c.*38C>T	NP_001269478.1:n.*38C>T
NR_104212.2:n.2337C>T
NR_104215.2:n.2280C>T
NR_104216.2:n.1536C>T