Canonical Allele Identifier: CA350451229

Gene: BARD1

Linked Data

• gnomAD v4: 2-214730476-C-G
• MyVariant Identifiers: chr2:g.215595200C>G (hg19) ; chr2:g.214730476C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730476C>G , CM000664.2:g.214730476C>G	GRCh38
NC_000002.11:g.215595200C>G , CM000664.1:g.215595200C>G	GRCh37
NC_000002.10:g.215303445C>G	NCBI36
NG_012047.2:g.84229G>C
NG_012047.3:g.84236G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1936G>C MANE Select	ENSP00000260947.4:p.Glu646Gln
ENST00000421162.2:c.583G>C	ENSP00000392245.2:p.Glu195Gln
ENST00000613192.2:c.191G>C	ENSP00000483275.2:p.Ter64Ser
ENST00000613374.5:c.526G>C	ENSP00000484464.1:p.Glu176Gln
ENST00000613706.5:c.1528G>C	ENSP00000484976.2:p.Glu510Gln
ENST00000617164.5:c.1879G>C	ENSP00000480470.1:p.Glu627Gln
ENST00000619009.5:c.397G>C	ENSP00000482293.1:p.Glu133Gln
ENST00000650978.1:c.3311G>C
ENST00000260947.8:c.1936G>C	ENSP00000260947.4:p.Glu646Gln
ENST00000421162.1:c.583G>C	ENSP00000392245.1:p.Glu195Gln
ENST00000432456.5:c.33G>C
ENST00000455743.5:c.*1556G>C	ENSP00000412186.1:n.*1556G>C
ENST00000471590.5:n.271G>C
ENST00000613192.1:c.106G>C	ENSP00000483275.1:p.Glu36Gln
ENST00000613374.4:c.526G>C	ENSP00000484464.1:p.Glu176Gln
ENST00000613706.4:c.583G>C	ENSP00000484976.1:p.Glu195Gln
ENST00000617164.4:c.1879G>C	ENSP00000480470.1:p.Glu627Gln
ENST00000619009.4:c.397G>C	ENSP00000482293.1:p.Glu133Gln
ENST00000620057.4:c.*602G>C	ENSP00000481988.1:n.*602G>C
NM_000465.3:c.1936G>C	NP_000456.2:p.Glu646Gln
NM_001282543.1:c.1879G>C	NP_001269472.1:p.Glu627Gln
NM_001282545.1:c.583G>C	NP_001269474.1:p.Glu195Gln
NM_001282548.1:c.526G>C	NP_001269477.1:p.Glu176Gln
NM_001282549.1:c.397G>C	NP_001269478.1:p.Glu133Gln
NR_104212.1:n.1929G>C
NR_104215.1:n.1872G>C
NR_104216.1:n.1128G>C
XM_011511567.1:c.1882G>C	XP_011509869.1:p.Glu628Gln
XM_017004613.1:c.2035G>C	XP_016860102.1:p.Glu679Gln
XR_002959322.1:n.2126G>C
NM_000465.4:c.1936G>C MANE Select	NP_000456.2:p.Glu646Gln
NM_001282543.2:c.1879G>C	NP_001269472.1:p.Glu627Gln
NM_001282545.2:c.583G>C	NP_001269474.1:p.Glu195Gln
NM_001282548.2:c.526G>C	NP_001269477.1:p.Glu176Gln
NM_001282549.2:c.397G>C	NP_001269478.1:p.Glu133Gln
NR_104212.2:n.1901G>C
NR_104215.2:n.1844G>C
NR_104216.2:n.1100G>C