Canonical Allele Identifier: CA350451268

Gene: BARD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1927A>C MANE Select	ENSP00000260947.4:p.Lys643Gln
ENST00000421162.2:c.574A>C	ENSP00000392245.2:p.Lys192Gln
ENST00000613192.2:c.182A>C	ENSP00000483275.2:p.Lys61Thr
ENST00000613374.5:c.517A>C	ENSP00000484464.1:p.Lys173Gln
ENST00000613706.5:c.1519A>C	ENSP00000484976.2:p.Lys507Gln
ENST00000617164.5:c.1870A>C	ENSP00000480470.1:p.Lys624Gln
ENST00000619009.5:c.388A>C	ENSP00000482293.1:p.Lys130Gln
ENST00000650978.1:c.3302A>C
ENST00000260947.8:c.1927A>C	ENSP00000260947.4:p.Lys643Gln
ENST00000421162.1:c.574A>C	ENSP00000392245.1:p.Lys192Gln
ENST00000432456.5:c.24A>C
ENST00000455743.5:c.*1547A>C	ENSP00000412186.1:n.*1547A>C
ENST00000471590.5:n.262A>C
ENST00000613192.1:c.97A>C	ENSP00000483275.1:p.Lys33Gln
ENST00000613374.4:c.517A>C	ENSP00000484464.1:p.Lys173Gln
ENST00000613706.4:c.574A>C	ENSP00000484976.1:p.Lys192Gln
ENST00000617164.4:c.1870A>C	ENSP00000480470.1:p.Lys624Gln
ENST00000619009.4:c.388A>C	ENSP00000482293.1:p.Lys130Gln
ENST00000620057.4:c.*593A>C	ENSP00000481988.1:n.*593A>C
NM_000465.3:c.1927A>C	NP_000456.2:p.Lys643Gln
NM_001282543.1:c.1870A>C	NP_001269472.1:p.Lys624Gln
NM_001282545.1:c.574A>C	NP_001269474.1:p.Lys192Gln
NM_001282548.1:c.517A>C	NP_001269477.1:p.Lys173Gln
NM_001282549.1:c.388A>C	NP_001269478.1:p.Lys130Gln
NR_104212.1:n.1920A>C
NR_104215.1:n.1863A>C
NR_104216.1:n.1119A>C
XM_011511567.1:c.1873A>C	XP_011509869.1:p.Lys625Gln
XM_017004613.1:c.2026A>C	XP_016860102.1:p.Lys676Gln
XR_002959322.1:n.2117A>C
NM_000465.4:c.1927A>C MANE Select	NP_000456.2:p.Lys643Gln
NM_001282543.2:c.1870A>C	NP_001269472.1:p.Lys624Gln
NM_001282545.2:c.574A>C	NP_001269474.1:p.Lys192Gln
NM_001282548.2:c.517A>C	NP_001269477.1:p.Lys173Gln
NM_001282549.2:c.388A>C	NP_001269478.1:p.Lys130Gln
NR_104212.2:n.1892A>C
NR_104215.2:n.1835A>C
NR_104216.2:n.1091A>C