Canonical Allele Identifier: CA2090337

Gene: BARD1

Linked Data

• ClinVar Variation Id: 460690
• ClinVar RCV Id: RCV000552814 ; RCV000570112
• dbSNP Id: rs761516178
• ExAC: 2:215645451 T / A
• gnomAD v2: 2-215645451-T-A
• gnomAD v4: 2-214780727-T-A
• MyVariant Identifiers: chr2:g.215645451T>A (hg19) ; chr2:g.214780727T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780727T>A , CM000664.2:g.214780727T>A	GRCh38
NC_000002.11:g.215645451T>A , CM000664.1:g.215645451T>A	GRCh37
NC_000002.10:g.215353696T>A	NCBI36
NG_012047.2:g.33978A>T
NG_012047.3:g.33985A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1147A>T MANE Select	ENSP00000260947.4:p.Met383Leu
ENST00000421162.2:c.215+16334A>T	ENSP00000392245.2:n.215+16334A>T
ENST00000613192.2:c.158+28685A>T	ENSP00000483275.2:n.158+28685A>T
ENST00000613374.5:c.159-28172A>T	ENSP00000484464.1:n.159-28172A>T
ENST00000613706.5:c.906+241A>T	ENSP00000484976.2:n.906+241A>T
ENST00000617164.5:c.1090A>T	ENSP00000480470.1:p.Met364Leu
ENST00000619009.5:c.364+11570A>T	ENSP00000482293.1:n.364+11570A>T
ENST00000650978.1:c.989A>T
ENST00000260947.8:c.1147A>T	ENSP00000260947.4:p.Met383Leu
ENST00000421162.1:c.215+16334A>T	ENSP00000392245.1:n.215+16334A>T
ENST00000455743.5:c.*767A>T	ENSP00000412186.1:n.*767A>T
ENST00000613192.1:c.73+28685A>T	ENSP00000483275.1:n.73+28685A>T
ENST00000613374.4:c.159-28172A>T	ENSP00000484464.1:n.159-28172A>T
ENST00000613706.4:c.215+16334A>T	ENSP00000484976.1:n.215+16334A>T
ENST00000617164.4:c.1090A>T	ENSP00000480470.1:p.Met364Leu
ENST00000619009.4:c.364+11570A>T	ENSP00000482293.1:n.364+11570A>T
ENST00000620057.4:c.365-11415A>T	ENSP00000481988.1:n.365-11415A>T
NM_000465.3:c.1147A>T	NP_000456.2:p.Met383Leu
NM_001282543.1:c.1090A>T	NP_001269472.1:p.Met364Leu
NM_001282545.1:c.215+16334A>T	NP_001269474.1:n.215+16334A>T
NM_001282548.1:c.159-28172A>T	NP_001269477.1:n.159-28172A>T
NM_001282549.1:c.364+11570A>T	NP_001269478.1:n.364+11570A>T
NR_104212.1:n.1140A>T
NR_104215.1:n.1083A>T
NR_104216.1:n.507-11415A>T
XM_011511567.1:c.1093A>T	XP_011509869.1:p.Met365Leu
XM_011511568.1:c.1147A>T	XP_011509870.1:p.Met383Leu
XM_017004613.1:c.1246A>T	XP_016860102.1:p.Met416Leu
XM_017004614.1:c.1246A>T	XP_016860103.1:p.Met416Leu
XR_002959322.1:n.1337A>T
NM_000465.4:c.1147A>T MANE Select	NP_000456.2:p.Met383Leu
NM_001282543.2:c.1090A>T	NP_001269472.1:p.Met364Leu
NM_001282545.2:c.215+16334A>T	NP_001269474.1:n.215+16334A>T
NM_001282548.2:c.159-28172A>T	NP_001269477.1:n.159-28172A>T
NM_001282549.2:c.364+11570A>T	NP_001269478.1:n.364+11570A>T
NR_104212.2:n.1112A>T
NR_104215.2:n.1055A>T
NR_104216.2:n.479-11415A>T