Canonical Allele Identifier: CA350452149

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215609829A>T (hg19) ; chr2:g.214745105A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745105A>T , CM000664.2:g.214745105A>T	GRCh38
NC_000002.11:g.215609829A>T , CM000664.1:g.215609829A>T	GRCh37
NC_000002.10:g.215318074A>T	NCBI36
NG_012047.2:g.69600T>A
NG_012047.3:g.69607T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1865T>A MANE Select	ENSP00000260947.4:p.Leu622His
ENST00000421162.2:c.512T>A	ENSP00000392245.2:p.Leu171His
ENST00000613192.2:c.159-14597T>A	ENSP00000483275.2:n.159-14597T>A
ENST00000613374.5:c.455T>A	ENSP00000484464.1:p.Leu152His
ENST00000613706.5:c.1457T>A	ENSP00000484976.2:p.Leu486His
ENST00000617164.5:c.1808T>A	ENSP00000480470.1:p.Leu603His
ENST00000619009.5:c.365-14597T>A	ENSP00000482293.1:n.365-14597T>A
ENST00000650978.1:c.3240T>A
ENST00000260947.8:c.1865T>A	ENSP00000260947.4:p.Leu622His
ENST00000421162.1:c.512T>A	ENSP00000392245.1:p.Leu171His
ENST00000455743.5:c.*1485T>A	ENSP00000412186.1:n.*1485T>A
ENST00000613192.1:c.74-14597T>A	ENSP00000483275.1:n.74-14597T>A
ENST00000613374.4:c.455T>A	ENSP00000484464.1:p.Leu152His
ENST00000613706.4:c.512T>A	ENSP00000484976.1:p.Leu171His
ENST00000617164.4:c.1808T>A	ENSP00000480470.1:p.Leu603His
ENST00000619009.4:c.365-14597T>A	ENSP00000482293.1:n.365-14597T>A
ENST00000620057.4:c.*531T>A	ENSP00000481988.1:n.*531T>A
NM_000465.3:c.1865T>A	NP_000456.2:p.Leu622His
NM_001282543.1:c.1808T>A	NP_001269472.1:p.Leu603His
NM_001282545.1:c.512T>A	NP_001269474.1:p.Leu171His
NM_001282548.1:c.455T>A	NP_001269477.1:p.Leu152His
NM_001282549.1:c.365-14597T>A	NP_001269478.1:n.365-14597T>A
NR_104212.1:n.1858T>A
NR_104215.1:n.1801T>A
NR_104216.1:n.1057T>A
XM_011511567.1:c.1811T>A	XP_011509869.1:p.Leu604His
XM_011511568.1:c.1865T>A	XP_011509870.1:p.Leu622His
XM_017004613.1:c.1964T>A	XP_016860102.1:p.Leu655His
XM_017004614.1:c.1964T>A	XP_016860103.1:p.Leu655His
XR_002959322.1:n.2055T>A
NM_000465.4:c.1865T>A MANE Select	NP_000456.2:p.Leu622His
NM_001282543.2:c.1808T>A	NP_001269472.1:p.Leu603His
NM_001282545.2:c.512T>A	NP_001269474.1:p.Leu171His
NM_001282548.2:c.455T>A	NP_001269477.1:p.Leu152His
NM_001282549.2:c.365-14597T>A	NP_001269478.1:n.365-14597T>A
NR_104212.2:n.1830T>A
NR_104215.2:n.1773T>A
NR_104216.2:n.1029T>A