Canonical Allele Identifier: CA350452603

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215610469T>A (hg19) ; chr2:g.214745745T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745745T>A , CM000664.2:g.214745745T>A	GRCh38
NC_000002.11:g.215610469T>A , CM000664.1:g.215610469T>A	GRCh37
NC_000002.10:g.215318714T>A	NCBI36
NG_012047.2:g.68960A>T
NG_012047.3:g.68967A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1787A>T MANE Select	ENSP00000260947.4:p.Lys596Ile
ENST00000421162.2:c.434A>T	ENSP00000392245.2:p.Lys145Ile
ENST00000613192.2:c.159-15237A>T	ENSP00000483275.2:n.159-15237A>T
ENST00000613374.5:c.377A>T	ENSP00000484464.1:p.Lys126Ile
ENST00000613706.5:c.1379A>T	ENSP00000484976.2:p.Lys460Ile
ENST00000617164.5:c.1730A>T	ENSP00000480470.1:p.Lys577Ile
ENST00000619009.5:c.365-15237A>T	ENSP00000482293.1:n.365-15237A>T
ENST00000650978.1:c.3162A>T
ENST00000260947.8:c.1787A>T	ENSP00000260947.4:p.Lys596Ile
ENST00000421162.1:c.434A>T	ENSP00000392245.1:p.Lys145Ile
ENST00000455743.5:c.*1407A>T	ENSP00000412186.1:n.*1407A>T
ENST00000465841.1:n.142A>T
ENST00000613192.1:c.74-15237A>T	ENSP00000483275.1:n.74-15237A>T
ENST00000613374.4:c.377A>T	ENSP00000484464.1:p.Lys126Ile
ENST00000613706.4:c.434A>T	ENSP00000484976.1:p.Lys145Ile
ENST00000617164.4:c.1730A>T	ENSP00000480470.1:p.Lys577Ile
ENST00000619009.4:c.365-15237A>T	ENSP00000482293.1:n.365-15237A>T
ENST00000620057.4:c.*453A>T	ENSP00000481988.1:n.*453A>T
NM_000465.3:c.1787A>T	NP_000456.2:p.Lys596Ile
NM_001282543.1:c.1730A>T	NP_001269472.1:p.Lys577Ile
NM_001282545.1:c.434A>T	NP_001269474.1:p.Lys145Ile
NM_001282548.1:c.377A>T	NP_001269477.1:p.Lys126Ile
NM_001282549.1:c.365-15237A>T	NP_001269478.1:n.365-15237A>T
NR_104212.1:n.1780A>T
NR_104215.1:n.1723A>T
NR_104216.1:n.979A>T
XM_011511567.1:c.1733A>T	XP_011509869.1:p.Lys578Ile
XM_011511568.1:c.1787A>T	XP_011509870.1:p.Lys596Ile
XM_017004613.1:c.1886A>T	XP_016860102.1:p.Lys629Ile
XM_017004614.1:c.1886A>T	XP_016860103.1:p.Lys629Ile
XR_002959322.1:n.1977A>T
NM_000465.4:c.1787A>T MANE Select	NP_000456.2:p.Lys596Ile
NM_001282543.2:c.1730A>T	NP_001269472.1:p.Lys577Ile
NM_001282545.2:c.434A>T	NP_001269474.1:p.Lys145Ile
NM_001282548.2:c.377A>T	NP_001269477.1:p.Lys126Ile
NM_001282549.2:c.365-15237A>T	NP_001269478.1:n.365-15237A>T
NR_104212.2:n.1752A>T
NR_104215.2:n.1695A>T
NR_104216.2:n.951A>T