Canonical Allele Identifier: CA431390882

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215645605G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780881G>T , CM000664.2:g.214780881G>T	GRCh38
NC_000002.11:g.215645605G>T , CM000664.1:g.215645605G>T	GRCh37
NC_000002.10:g.215353850G>T	NCBI36
NG_012047.2:g.33824C>A
NG_012047.3:g.33831C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.993C>A MANE Select	ENSP00000260947.4:p.Pro331=
ENST00000421162.2:c.215+16180C>A	ENSP00000392245.2:n.215+16180C>A
ENST00000613192.2:c.158+28531C>A	ENSP00000483275.2:n.158+28531C>A
ENST00000613374.5:c.159-28326C>A	ENSP00000484464.1:n.159-28326C>A
ENST00000613706.5:c.906+87C>A	ENSP00000484976.2:n.906+87C>A
ENST00000617164.5:c.936C>A	ENSP00000480470.1:p.Pro312=
ENST00000619009.5:c.364+11416C>A	ENSP00000482293.1:n.364+11416C>A
ENST00000650978.1:c.835C>A
ENST00000260947.8:c.993C>A	ENSP00000260947.4:p.Pro331=
ENST00000421162.1:c.215+16180C>A	ENSP00000392245.1:n.215+16180C>A
ENST00000455743.5:c.*613C>A	ENSP00000412186.1:n.*613C>A
ENST00000613192.1:c.73+28531C>A	ENSP00000483275.1:n.73+28531C>A
ENST00000613374.4:c.159-28326C>A	ENSP00000484464.1:n.159-28326C>A
ENST00000613706.4:c.215+16180C>A	ENSP00000484976.1:n.215+16180C>A
ENST00000617164.4:c.936C>A	ENSP00000480470.1:p.Pro312=
ENST00000619009.4:c.364+11416C>A	ENSP00000482293.1:n.364+11416C>A
ENST00000620057.4:c.364+11416C>A	ENSP00000481988.1:n.364+11416C>A
NM_000465.3:c.993C>A	NP_000456.2:p.Pro331=
NM_001282543.1:c.936C>A	NP_001269472.1:p.Pro312=
NM_001282545.1:c.215+16180C>A	NP_001269474.1:n.215+16180C>A
NM_001282548.1:c.159-28326C>A	NP_001269477.1:n.159-28326C>A
NM_001282549.1:c.364+11416C>A	NP_001269478.1:n.364+11416C>A
NR_104212.1:n.986C>A
NR_104215.1:n.929C>A
NR_104216.1:n.506+11416C>A
XM_011511567.1:c.939C>A	XP_011509869.1:p.Pro313=
XM_011511568.1:c.993C>A	XP_011509870.1:p.Pro331=
XM_017004613.1:c.1092C>A	XP_016860102.1:p.Pro364=
XM_017004614.1:c.1092C>A	XP_016860103.1:p.Pro364=
XR_002959322.1:n.1183C>A
NM_000465.4:c.993C>A MANE Select	NP_000456.2:p.Pro331=
NM_001282543.2:c.936C>A	NP_001269472.1:p.Pro312=
NM_001282545.2:c.215+16180C>A	NP_001269474.1:n.215+16180C>A
NM_001282548.2:c.159-28326C>A	NP_001269477.1:n.159-28326C>A
NM_001282549.2:c.364+11416C>A	NP_001269478.1:n.364+11416C>A
NR_104212.2:n.958C>A
NR_104215.2:n.901C>A
NR_104216.2:n.478+11416C>A