Canonical Allele Identifier: CA350452182

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215609838T>A (hg19) ; chr2:g.214745114T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745114T>A , CM000664.2:g.214745114T>A	GRCh38
NC_000002.11:g.215609838T>A , CM000664.1:g.215609838T>A	GRCh37
NC_000002.10:g.215318083T>A	NCBI36
NG_012047.2:g.69591A>T
NG_012047.3:g.69598A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1856A>T MANE Select	ENSP00000260947.4:p.Lys619Met
ENST00000421162.2:c.503A>T	ENSP00000392245.2:p.Lys168Met
ENST00000613192.2:c.159-14606A>T	ENSP00000483275.2:n.159-14606A>T
ENST00000613374.5:c.446A>T	ENSP00000484464.1:p.Lys149Met
ENST00000613706.5:c.1448A>T	ENSP00000484976.2:p.Lys483Met
ENST00000617164.5:c.1799A>T	ENSP00000480470.1:p.Lys600Met
ENST00000619009.5:c.365-14606A>T	ENSP00000482293.1:n.365-14606A>T
ENST00000650978.1:c.3231A>T
ENST00000260947.8:c.1856A>T	ENSP00000260947.4:p.Lys619Met
ENST00000421162.1:c.503A>T	ENSP00000392245.1:p.Lys168Met
ENST00000455743.5:c.*1476A>T	ENSP00000412186.1:n.*1476A>T
ENST00000613192.1:c.74-14606A>T	ENSP00000483275.1:n.74-14606A>T
ENST00000613374.4:c.446A>T	ENSP00000484464.1:p.Lys149Met
ENST00000613706.4:c.503A>T	ENSP00000484976.1:p.Lys168Met
ENST00000617164.4:c.1799A>T	ENSP00000480470.1:p.Lys600Met
ENST00000619009.4:c.365-14606A>T	ENSP00000482293.1:n.365-14606A>T
ENST00000620057.4:c.*522A>T	ENSP00000481988.1:n.*522A>T
NM_000465.3:c.1856A>T	NP_000456.2:p.Lys619Met
NM_001282543.1:c.1799A>T	NP_001269472.1:p.Lys600Met
NM_001282545.1:c.503A>T	NP_001269474.1:p.Lys168Met
NM_001282548.1:c.446A>T	NP_001269477.1:p.Lys149Met
NM_001282549.1:c.365-14606A>T	NP_001269478.1:n.365-14606A>T
NR_104212.1:n.1849A>T
NR_104215.1:n.1792A>T
NR_104216.1:n.1048A>T
XM_011511567.1:c.1802A>T	XP_011509869.1:p.Lys601Met
XM_011511568.1:c.1856A>T	XP_011509870.1:p.Lys619Met
XM_017004613.1:c.1955A>T	XP_016860102.1:p.Lys652Met
XM_017004614.1:c.1955A>T	XP_016860103.1:p.Lys652Met
XR_002959322.1:n.2046A>T
NM_000465.4:c.1856A>T MANE Select	NP_000456.2:p.Lys619Met
NM_001282543.2:c.1799A>T	NP_001269472.1:p.Lys600Met
NM_001282545.2:c.503A>T	NP_001269474.1:p.Lys168Met
NM_001282548.2:c.446A>T	NP_001269477.1:p.Lys149Met
NM_001282549.2:c.365-14606A>T	NP_001269478.1:n.365-14606A>T
NR_104212.2:n.1821A>T
NR_104215.2:n.1764A>T
NR_104216.2:n.1020A>T