Canonical Allele Identifier: CA350451190

Gene: BARD1

Linked Data

• dbSNP Id: rs1355978938
• gnomAD v3: 2-214730467-C-A
• gnomAD v4: 2-214730467-C-A
• MyVariant Identifiers: chr2:g.215595191C>A (hg19) ; chr2:g.214730467C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730467C>A , CM000664.2:g.214730467C>A	GRCh38
NC_000002.11:g.215595191C>A , CM000664.1:g.215595191C>A	GRCh37
NC_000002.10:g.215303436C>A	NCBI36
NG_012047.2:g.84238G>T
NG_012047.3:g.84245G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1945G>T MANE Select	ENSP00000260947.4:p.Glu649Ter
ENST00000421162.2:c.592G>T	ENSP00000392245.2:p.Glu198Ter
ENST00000613192.2:c.*8G>T	ENSP00000483275.2:n.*8G>T
ENST00000613374.5:c.535G>T	ENSP00000484464.1:p.Glu179Ter
ENST00000613706.5:c.1537G>T	ENSP00000484976.2:p.Glu513Ter
ENST00000617164.5:c.1888G>T	ENSP00000480470.1:p.Glu630Ter
ENST00000619009.5:c.406G>T	ENSP00000482293.1:p.Glu136Ter
ENST00000650978.1:c.3320G>T
ENST00000260947.8:c.1945G>T	ENSP00000260947.4:p.Glu649Ter
ENST00000421162.1:c.592G>T	ENSP00000392245.1:p.Glu198Ter
ENST00000432456.5:c.42G>T
ENST00000455743.5:c.*1565G>T	ENSP00000412186.1:n.*1565G>T
ENST00000471590.5:n.280G>T
ENST00000613192.1:c.115G>T	ENSP00000483275.1:p.Glu39Ter
ENST00000613374.4:c.535G>T	ENSP00000484464.1:p.Glu179Ter
ENST00000613706.4:c.592G>T	ENSP00000484976.1:p.Glu198Ter
ENST00000617164.4:c.1888G>T	ENSP00000480470.1:p.Glu630Ter
ENST00000619009.4:c.406G>T	ENSP00000482293.1:p.Glu136Ter
ENST00000620057.4:c.*611G>T	ENSP00000481988.1:n.*611G>T
NM_000465.3:c.1945G>T	NP_000456.2:p.Glu649Ter
NM_001282543.1:c.1888G>T	NP_001269472.1:p.Glu630Ter
NM_001282545.1:c.592G>T	NP_001269474.1:p.Glu198Ter
NM_001282548.1:c.535G>T	NP_001269477.1:p.Glu179Ter
NM_001282549.1:c.406G>T	NP_001269478.1:p.Glu136Ter
NR_104212.1:n.1938G>T
NR_104215.1:n.1881G>T
NR_104216.1:n.1137G>T
XM_011511567.1:c.1891G>T	XP_011509869.1:p.Glu631Ter
XM_017004613.1:c.2044G>T	XP_016860102.1:p.Glu682Ter
XR_002959322.1:n.2135G>T
NM_000465.4:c.1945G>T MANE Select	NP_000456.2:p.Glu649Ter
NM_001282543.2:c.1888G>T	NP_001269472.1:p.Glu630Ter
NM_001282545.2:c.592G>T	NP_001269474.1:p.Glu198Ter
NM_001282548.2:c.535G>T	NP_001269477.1:p.Glu179Ter
NM_001282549.2:c.406G>T	NP_001269478.1:p.Glu136Ter
NR_104212.2:n.1910G>T
NR_104215.2:n.1853G>T
NR_104216.2:n.1109G>T