Canonical Allele Identifier: CA350450002

Gene: BARD1

Linked Data

• dbSNP Id: rs1692200373
• MyVariant Identifiers: chr2:g.215593488C>A (hg19) ; chr2:g.214728764C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728764C>A , CM000664.2:g.214728764C>A	GRCh38
NC_000002.11:g.215593488C>A , CM000664.1:g.215593488C>A	GRCh37
NC_000002.10:g.215301733C>A	NCBI36
NG_012047.2:g.85941G>T
NG_012047.3:g.85948G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2246G>T MANE Select	ENSP00000260947.4:p.Arg749Met
ENST00000421162.2:c.893G>T	ENSP00000392245.2:p.Arg298Met
ENST00000613192.2:c.*309G>T	ENSP00000483275.2:n.*309G>T
ENST00000613374.5:c.836G>T	ENSP00000484464.1:p.Arg279Met
ENST00000613706.5:c.1838G>T	ENSP00000484976.2:p.Arg613Met
ENST00000617164.5:c.2189G>T	ENSP00000480470.1:p.Arg730Met
ENST00000619009.5:c.707G>T	ENSP00000482293.1:p.Arg236Met
ENST00000650978.1:c.3621G>T
ENST00000260947.8:c.2246G>T	ENSP00000260947.4:p.Arg749Met
ENST00000432456.5:c.389G>T
ENST00000455743.5:c.*1866G>T	ENSP00000412186.1:n.*1866G>T
ENST00000471590.5:n.581G>T
ENST00000613192.1:c.416G>T	ENSP00000483275.1:p.Arg139Met
ENST00000613374.4:c.836G>T	ENSP00000484464.1:p.Arg279Met
ENST00000613706.4:c.893G>T	ENSP00000484976.1:p.Arg298Met
ENST00000617164.4:c.2189G>T	ENSP00000480470.1:p.Arg730Met
ENST00000619009.4:c.707G>T	ENSP00000482293.1:p.Arg236Met
ENST00000620057.4:c.*912G>T	ENSP00000481988.1:n.*912G>T
NM_000465.3:c.2246G>T	NP_000456.2:p.Arg749Met
NM_001282543.1:c.2189G>T	NP_001269472.1:p.Arg730Met
NM_001282545.1:c.893G>T	NP_001269474.1:p.Arg298Met
NM_001282548.1:c.836G>T	NP_001269477.1:p.Arg279Met
NM_001282549.1:c.707G>T	NP_001269478.1:p.Arg236Met
NR_104212.1:n.2239G>T
NR_104215.1:n.2182G>T
NR_104216.1:n.1438G>T
XM_011511567.1:c.2192G>T	XP_011509869.1:p.Arg731Met
XM_017004613.1:c.2345G>T	XP_016860102.1:p.Arg782Met
XR_002959322.1:n.2612G>T
NM_000465.4:c.2246G>T MANE Select	NP_000456.2:p.Arg749Met
NM_001282543.2:c.2189G>T	NP_001269472.1:p.Arg730Met
NM_001282545.2:c.893G>T	NP_001269474.1:p.Arg298Met
NM_001282548.2:c.836G>T	NP_001269477.1:p.Arg279Met
NM_001282549.2:c.707G>T	NP_001269478.1:p.Arg236Met
NR_104212.2:n.2211G>T
NR_104215.2:n.2154G>T
NR_104216.2:n.1410G>T