Canonical Allele Identifier: CA350453953

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1722107
• ClinVar RCV Id: RCV002295152
• dbSNP Id: rs1694956218
• gnomAD v3: 2-214780720-T-C
• gnomAD v4: 2-214780720-T-C
• MyVariant Identifiers: chr2:g.215645444T>C (hg19) ; chr2:g.214780720T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780720T>C , CM000664.2:g.214780720T>C	GRCh38
NC_000002.11:g.215645444T>C , CM000664.1:g.215645444T>C	GRCh37
NC_000002.10:g.215353689T>C	NCBI36
NG_012047.2:g.33985A>G
NG_012047.3:g.33992A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1154A>G MANE Select	ENSP00000260947.4:p.Asp385Gly
ENST00000421162.2:c.215+16341A>G	ENSP00000392245.2:n.215+16341A>G
ENST00000613192.2:c.158+28692A>G	ENSP00000483275.2:n.158+28692A>G
ENST00000613374.5:c.159-28165A>G	ENSP00000484464.1:n.159-28165A>G
ENST00000613706.5:c.906+248A>G	ENSP00000484976.2:n.906+248A>G
ENST00000617164.5:c.1097A>G	ENSP00000480470.1:p.Asp366Gly
ENST00000619009.5:c.364+11577A>G	ENSP00000482293.1:n.364+11577A>G
ENST00000650978.1:c.996A>G
ENST00000260947.8:c.1154A>G	ENSP00000260947.4:p.Asp385Gly
ENST00000421162.1:c.215+16341A>G	ENSP00000392245.1:n.215+16341A>G
ENST00000455743.5:c.*774A>G	ENSP00000412186.1:n.*774A>G
ENST00000613192.1:c.73+28692A>G	ENSP00000483275.1:n.73+28692A>G
ENST00000613374.4:c.159-28165A>G	ENSP00000484464.1:n.159-28165A>G
ENST00000613706.4:c.215+16341A>G	ENSP00000484976.1:n.215+16341A>G
ENST00000617164.4:c.1097A>G	ENSP00000480470.1:p.Asp366Gly
ENST00000619009.4:c.364+11577A>G	ENSP00000482293.1:n.364+11577A>G
ENST00000620057.4:c.365-11408A>G	ENSP00000481988.1:n.365-11408A>G
NM_000465.3:c.1154A>G	NP_000456.2:p.Asp385Gly
NM_001282543.1:c.1097A>G	NP_001269472.1:p.Asp366Gly
NM_001282545.1:c.215+16341A>G	NP_001269474.1:n.215+16341A>G
NM_001282548.1:c.159-28165A>G	NP_001269477.1:n.159-28165A>G
NM_001282549.1:c.364+11577A>G	NP_001269478.1:n.364+11577A>G
NR_104212.1:n.1147A>G
NR_104215.1:n.1090A>G
NR_104216.1:n.507-11408A>G
XM_011511567.1:c.1100A>G	XP_011509869.1:p.Asp367Gly
XM_011511568.1:c.1154A>G	XP_011509870.1:p.Asp385Gly
XM_017004613.1:c.1253A>G	XP_016860102.1:p.Asp418Gly
XM_017004614.1:c.1253A>G	XP_016860103.1:p.Asp418Gly
XR_002959322.1:n.1344A>G
NM_000465.4:c.1154A>G MANE Select	NP_000456.2:p.Asp385Gly
NM_001282543.2:c.1097A>G	NP_001269472.1:p.Asp366Gly
NM_001282545.2:c.215+16341A>G	NP_001269474.1:n.215+16341A>G
NM_001282548.2:c.159-28165A>G	NP_001269477.1:n.159-28165A>G
NM_001282549.2:c.364+11577A>G	NP_001269478.1:n.364+11577A>G
NR_104212.2:n.1119A>G
NR_104215.2:n.1062A>G
NR_104216.2:n.479-11408A>G