Canonical Allele Identifier: CA350460859

Gene: BARD1

Linked Data

• gnomAD v4: 2-214792332-T-A
• MyVariant Identifiers: chr2:g.215657056T>A (hg19) ; chr2:g.214792332T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792332T>A , CM000664.2:g.214792332T>A	GRCh38
NC_000002.11:g.215657056T>A , CM000664.1:g.215657056T>A	GRCh37
NC_000002.10:g.215365301T>A	NCBI36
NG_012047.2:g.22373A>T
NG_012047.3:g.22380A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.329A>T MANE Select	ENSP00000260947.4:p.Lys110Met
ENST00000421162.2:c.215+4729A>T	ENSP00000392245.2:n.215+4729A>T
ENST00000613192.2:c.158+17080A>T	ENSP00000483275.2:n.158+17080A>T
ENST00000613374.5:c.158+17080A>T	ENSP00000484464.1:n.158+17080A>T
ENST00000613706.5:c.329A>T	ENSP00000484976.2:p.Lys110Met
ENST00000617164.5:c.272A>T	ENSP00000480470.1:p.Lys91Met
ENST00000619009.5:c.329A>T	ENSP00000482293.1:p.Lys110Met
ENST00000650978.1:c.171A>T
ENST00000260947.8:c.329A>T	ENSP00000260947.4:p.Lys110Met
ENST00000421162.1:c.215+4729A>T	ENSP00000392245.1:n.215+4729A>T
ENST00000455743.5:c.215+4729A>T	ENSP00000412186.1:n.215+4729A>T
ENST00000471787.1:n.260-10823A>T
ENST00000613192.1:c.73+17080A>T	ENSP00000483275.1:n.73+17080A>T
ENST00000613374.4:c.158+17080A>T	ENSP00000484464.1:n.158+17080A>T
ENST00000613706.4:c.215+4729A>T	ENSP00000484976.1:n.215+4729A>T
ENST00000617164.4:c.272A>T	ENSP00000480470.1:p.Lys91Met
ENST00000619009.4:c.329A>T	ENSP00000482293.1:p.Lys110Met
ENST00000620057.4:c.329A>T	ENSP00000481988.1:p.Lys110Met
NM_000465.3:c.329A>T	NP_000456.2:p.Lys110Met
NM_001282543.1:c.272A>T	NP_001269472.1:p.Lys91Met
NM_001282545.1:c.215+4729A>T	NP_001269474.1:n.215+4729A>T
NM_001282548.1:c.158+17080A>T	NP_001269477.1:n.158+17080A>T
NM_001282549.1:c.329A>T	NP_001269478.1:p.Lys110Met
NR_104212.1:n.357+4729A>T
NR_104215.1:n.301-10823A>T
NR_104216.1:n.471A>T
XM_011511567.1:c.275A>T	XP_011509869.1:p.Lys92Met
XM_011511568.1:c.329A>T	XP_011509870.1:p.Lys110Met
XM_017004613.1:c.428A>T	XP_016860102.1:p.Lys143Met
XM_017004614.1:c.428A>T	XP_016860103.1:p.Lys143Met
XR_002959322.1:n.519A>T
NM_000465.4:c.329A>T MANE Select	NP_000456.2:p.Lys110Met
NM_001282543.2:c.272A>T	NP_001269472.1:p.Lys91Met
NM_001282545.2:c.215+4729A>T	NP_001269474.1:n.215+4729A>T
NM_001282548.2:c.158+17080A>T	NP_001269477.1:n.158+17080A>T
NM_001282549.2:c.329A>T	NP_001269478.1:p.Lys110Met
NR_104212.2:n.329+4729A>T
NR_104215.2:n.273-10823A>T
NR_104216.2:n.443A>T