Canonical Allele Identifier: CA350451185

Gene: BARD1

Linked Data

• dbSNP Id: rs1222109307
• gnomAD v3: 2-214730466-T-A
• gnomAD v4: 2-214730466-T-A
• MyVariant Identifiers: chr2:g.215595190T>A (hg19) ; chr2:g.214730466T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730466T>A , CM000664.2:g.214730466T>A	GRCh38
NC_000002.11:g.215595190T>A , CM000664.1:g.215595190T>A	GRCh37
NC_000002.10:g.215303435T>A	NCBI36
NG_012047.2:g.84239A>T
NG_012047.3:g.84246A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1946A>T MANE Select	ENSP00000260947.4:p.Glu649Val
ENST00000421162.2:c.593A>T	ENSP00000392245.2:p.Glu198Val
ENST00000613192.2:c.*9A>T	ENSP00000483275.2:n.*9A>T
ENST00000613374.5:c.536A>T	ENSP00000484464.1:p.Glu179Val
ENST00000613706.5:c.1538A>T	ENSP00000484976.2:p.Glu513Val
ENST00000617164.5:c.1889A>T	ENSP00000480470.1:p.Glu630Val
ENST00000619009.5:c.407A>T	ENSP00000482293.1:p.Glu136Val
ENST00000650978.1:c.3321A>T
ENST00000260947.8:c.1946A>T	ENSP00000260947.4:p.Glu649Val
ENST00000421162.1:c.593A>T	ENSP00000392245.1:p.Glu198Val
ENST00000432456.5:c.43A>T
ENST00000455743.5:c.*1566A>T	ENSP00000412186.1:n.*1566A>T
ENST00000471590.5:n.281A>T
ENST00000613192.1:c.116A>T	ENSP00000483275.1:p.Glu39Val
ENST00000613374.4:c.536A>T	ENSP00000484464.1:p.Glu179Val
ENST00000613706.4:c.593A>T	ENSP00000484976.1:p.Glu198Val
ENST00000617164.4:c.1889A>T	ENSP00000480470.1:p.Glu630Val
ENST00000619009.4:c.407A>T	ENSP00000482293.1:p.Glu136Val
ENST00000620057.4:c.*612A>T	ENSP00000481988.1:n.*612A>T
NM_000465.3:c.1946A>T	NP_000456.2:p.Glu649Val
NM_001282543.1:c.1889A>T	NP_001269472.1:p.Glu630Val
NM_001282545.1:c.593A>T	NP_001269474.1:p.Glu198Val
NM_001282548.1:c.536A>T	NP_001269477.1:p.Glu179Val
NM_001282549.1:c.407A>T	NP_001269478.1:p.Glu136Val
NR_104212.1:n.1939A>T
NR_104215.1:n.1882A>T
NR_104216.1:n.1138A>T
XM_011511567.1:c.1892A>T	XP_011509869.1:p.Glu631Val
XM_017004613.1:c.2045A>T	XP_016860102.1:p.Glu682Val
XR_002959322.1:n.2136A>T
NM_000465.4:c.1946A>T MANE Select	NP_000456.2:p.Glu649Val
NM_001282543.2:c.1889A>T	NP_001269472.1:p.Glu630Val
NM_001282545.2:c.593A>T	NP_001269474.1:p.Glu198Val
NM_001282548.2:c.536A>T	NP_001269477.1:p.Glu179Val
NM_001282549.2:c.407A>T	NP_001269478.1:p.Glu136Val
NR_104212.2:n.1911A>T
NR_104215.2:n.1854A>T
NR_104216.2:n.1110A>T