Canonical Allele Identifier: CA350451266

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595209T>C (hg19) ; chr2:g.214730485T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730485T>C , CM000664.2:g.214730485T>C	GRCh38
NC_000002.11:g.215595209T>C , CM000664.1:g.215595209T>C	GRCh37
NC_000002.10:g.215303454T>C	NCBI36
NG_012047.2:g.84220A>G
NG_012047.3:g.84227A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1927A>G MANE Select	ENSP00000260947.4:p.Lys643Glu
ENST00000421162.2:c.574A>G	ENSP00000392245.2:p.Lys192Glu
ENST00000613192.2:c.182A>G	ENSP00000483275.2:p.Lys61Arg
ENST00000613374.5:c.517A>G	ENSP00000484464.1:p.Lys173Glu
ENST00000613706.5:c.1519A>G	ENSP00000484976.2:p.Lys507Glu
ENST00000617164.5:c.1870A>G	ENSP00000480470.1:p.Lys624Glu
ENST00000619009.5:c.388A>G	ENSP00000482293.1:p.Lys130Glu
ENST00000650978.1:c.3302A>G
ENST00000260947.8:c.1927A>G	ENSP00000260947.4:p.Lys643Glu
ENST00000421162.1:c.574A>G	ENSP00000392245.1:p.Lys192Glu
ENST00000432456.5:c.24A>G
ENST00000455743.5:c.*1547A>G	ENSP00000412186.1:n.*1547A>G
ENST00000471590.5:n.262A>G
ENST00000613192.1:c.97A>G	ENSP00000483275.1:p.Lys33Glu
ENST00000613374.4:c.517A>G	ENSP00000484464.1:p.Lys173Glu
ENST00000613706.4:c.574A>G	ENSP00000484976.1:p.Lys192Glu
ENST00000617164.4:c.1870A>G	ENSP00000480470.1:p.Lys624Glu
ENST00000619009.4:c.388A>G	ENSP00000482293.1:p.Lys130Glu
ENST00000620057.4:c.*593A>G	ENSP00000481988.1:n.*593A>G
NM_000465.3:c.1927A>G	NP_000456.2:p.Lys643Glu
NM_001282543.1:c.1870A>G	NP_001269472.1:p.Lys624Glu
NM_001282545.1:c.574A>G	NP_001269474.1:p.Lys192Glu
NM_001282548.1:c.517A>G	NP_001269477.1:p.Lys173Glu
NM_001282549.1:c.388A>G	NP_001269478.1:p.Lys130Glu
NR_104212.1:n.1920A>G
NR_104215.1:n.1863A>G
NR_104216.1:n.1119A>G
XM_011511567.1:c.1873A>G	XP_011509869.1:p.Lys625Glu
XM_017004613.1:c.2026A>G	XP_016860102.1:p.Lys676Glu
XR_002959322.1:n.2117A>G
NM_000465.4:c.1927A>G MANE Select	NP_000456.2:p.Lys643Glu
NM_001282543.2:c.1870A>G	NP_001269472.1:p.Lys624Glu
NM_001282545.2:c.574A>G	NP_001269474.1:p.Lys192Glu
NM_001282548.2:c.517A>G	NP_001269477.1:p.Lys173Glu
NM_001282549.2:c.388A>G	NP_001269478.1:p.Lys130Glu
NR_104212.2:n.1892A>G
NR_104215.2:n.1835A>G
NR_104216.2:n.1091A>G