Canonical Allele Identifier: CA350454947

Gene: BARD1

Linked Data

• gnomAD v4: 2-214752527-A-C
• MyVariant Identifiers: chr2:g.215617251A>C (hg19) ; chr2:g.214752527A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752527A>C , CM000664.2:g.214752527A>C	GRCh38
NC_000002.11:g.215617251A>C , CM000664.1:g.215617251A>C	GRCh37
NC_000002.10:g.215325496A>C	NCBI36
NG_012047.2:g.62178T>G
NG_012047.3:g.62185T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1597T>G MANE Select	ENSP00000260947.4:p.Tyr533Asp
ENST00000421162.2:c.244T>G	ENSP00000392245.2:p.Tyr82Asp
ENST00000613192.2:c.159-22019T>G	ENSP00000483275.2:n.159-22019T>G
ENST00000613374.5:c.187T>G	ENSP00000484464.1:p.Tyr63Asp
ENST00000613706.5:c.1189T>G	ENSP00000484976.2:p.Tyr397Asp
ENST00000617164.5:c.1540T>G	ENSP00000480470.1:p.Tyr514Asp
ENST00000619009.5:c.365-22019T>G	ENSP00000482293.1:n.365-22019T>G
ENST00000650978.1:c.2972T>G
ENST00000260947.8:c.1597T>G	ENSP00000260947.4:p.Tyr533Asp
ENST00000421162.1:c.244T>G	ENSP00000392245.1:p.Tyr82Asp
ENST00000455743.5:c.*1217T>G	ENSP00000412186.1:n.*1217T>G
ENST00000613192.1:c.74-22019T>G	ENSP00000483275.1:n.74-22019T>G
ENST00000613374.4:c.187T>G	ENSP00000484464.1:p.Tyr63Asp
ENST00000613706.4:c.244T>G	ENSP00000484976.1:p.Tyr82Asp
ENST00000617164.4:c.1540T>G	ENSP00000480470.1:p.Tyr514Asp
ENST00000619009.4:c.365-22019T>G	ENSP00000482293.1:n.365-22019T>G
ENST00000620057.4:c.*263T>G	ENSP00000481988.1:n.*263T>G
NM_000465.3:c.1597T>G	NP_000456.2:p.Tyr533Asp
NM_001282543.1:c.1540T>G	NP_001269472.1:p.Tyr514Asp
NM_001282545.1:c.244T>G	NP_001269474.1:p.Tyr82Asp
NM_001282548.1:c.187T>G	NP_001269477.1:p.Tyr63Asp
NM_001282549.1:c.365-22019T>G	NP_001269478.1:n.365-22019T>G
NR_104212.1:n.1590T>G
NR_104215.1:n.1533T>G
NR_104216.1:n.789T>G
XM_011511567.1:c.1543T>G	XP_011509869.1:p.Tyr515Asp
XM_011511568.1:c.1597T>G	XP_011509870.1:p.Tyr533Asp
XM_017004613.1:c.1696T>G	XP_016860102.1:p.Tyr566Asp
XM_017004614.1:c.1696T>G	XP_016860103.1:p.Tyr566Asp
XR_002959322.1:n.1787T>G
NM_000465.4:c.1597T>G MANE Select	NP_000456.2:p.Tyr533Asp
NM_001282543.2:c.1540T>G	NP_001269472.1:p.Tyr514Asp
NM_001282545.2:c.244T>G	NP_001269474.1:p.Tyr82Asp
NM_001282548.2:c.187T>G	NP_001269477.1:p.Tyr63Asp
NM_001282549.2:c.365-22019T>G	NP_001269478.1:n.365-22019T>G
NR_104212.2:n.1562T>G
NR_104215.2:n.1505T>G
NR_104216.2:n.761T>G