Canonical Allele Identifier: CA350451083

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215595136A>C (hg19) ; chr2:g.214730412A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730412A>C , CM000664.2:g.214730412A>C	GRCh38
NC_000002.11:g.215595136A>C , CM000664.1:g.215595136A>C	GRCh37
NC_000002.10:g.215303381A>C	NCBI36
NG_012047.2:g.84293T>G
NG_012047.3:g.84300T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2000T>G MANE Select	ENSP00000260947.4:p.Leu667Arg
ENST00000421162.2:c.647T>G	ENSP00000392245.2:p.Leu216Arg
ENST00000613192.2:c.*63T>G	ENSP00000483275.2:n.*63T>G
ENST00000613374.5:c.590T>G	ENSP00000484464.1:p.Leu197Arg
ENST00000613706.5:c.1592T>G	ENSP00000484976.2:p.Leu531Arg
ENST00000617164.5:c.1943T>G	ENSP00000480470.1:p.Leu648Arg
ENST00000619009.5:c.461T>G	ENSP00000482293.1:p.Leu154Arg
ENST00000650978.1:c.3375T>G
ENST00000260947.8:c.2000T>G	ENSP00000260947.4:p.Leu667Arg
ENST00000421162.1:c.647T>G	ENSP00000392245.1:p.Leu216Arg
ENST00000432456.5:c.97T>G
ENST00000455743.5:c.*1620T>G	ENSP00000412186.1:n.*1620T>G
ENST00000471590.5:n.335T>G
ENST00000613192.1:c.170T>G	ENSP00000483275.1:p.Leu57Arg
ENST00000613374.4:c.590T>G	ENSP00000484464.1:p.Leu197Arg
ENST00000613706.4:c.647T>G	ENSP00000484976.1:p.Leu216Arg
ENST00000617164.4:c.1943T>G	ENSP00000480470.1:p.Leu648Arg
ENST00000619009.4:c.461T>G	ENSP00000482293.1:p.Leu154Arg
ENST00000620057.4:c.*666T>G	ENSP00000481988.1:n.*666T>G
NM_000465.3:c.2000T>G	NP_000456.2:p.Leu667Arg
NM_001282543.1:c.1943T>G	NP_001269472.1:p.Leu648Arg
NM_001282545.1:c.647T>G	NP_001269474.1:p.Leu216Arg
NM_001282548.1:c.590T>G	NP_001269477.1:p.Leu197Arg
NM_001282549.1:c.461T>G	NP_001269478.1:p.Leu154Arg
NR_104212.1:n.1993T>G
NR_104215.1:n.1936T>G
NR_104216.1:n.1192T>G
XM_011511567.1:c.1946T>G	XP_011509869.1:p.Leu649Arg
XM_017004613.1:c.2099T>G	XP_016860102.1:p.Leu700Arg
XR_002959322.1:n.2190T>G
NM_000465.4:c.2000T>G MANE Select	NP_000456.2:p.Leu667Arg
NM_001282543.2:c.1943T>G	NP_001269472.1:p.Leu648Arg
NM_001282545.2:c.647T>G	NP_001269474.1:p.Leu216Arg
NM_001282548.2:c.590T>G	NP_001269477.1:p.Leu197Arg
NM_001282549.2:c.461T>G	NP_001269478.1:p.Leu154Arg
NR_104212.2:n.1965T>G
NR_104215.2:n.1908T>G
NR_104216.2:n.1164T>G