Canonical Allele Identifier: CA350455087

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215645683T>A (hg19) ; chr2:g.214780959T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780959T>A , CM000664.2:g.214780959T>A	GRCh38
NC_000002.11:g.215645683T>A , CM000664.1:g.215645683T>A	GRCh37
NC_000002.10:g.215353928T>A	NCBI36
NG_012047.2:g.33746A>T
NG_012047.3:g.33753A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.915A>T MANE Select	ENSP00000260947.4:p.Lys305Asn
ENST00000421162.2:c.215+16102A>T	ENSP00000392245.2:n.215+16102A>T
ENST00000613192.2:c.158+28453A>T	ENSP00000483275.2:n.158+28453A>T
ENST00000613374.5:c.159-28404A>T	ENSP00000484464.1:n.159-28404A>T
ENST00000613706.5:c.906+9A>T	ENSP00000484976.2:n.906+9A>T
ENST00000617164.5:c.858A>T	ENSP00000480470.1:p.Lys286Asn
ENST00000619009.5:c.364+11338A>T	ENSP00000482293.1:n.364+11338A>T
ENST00000650978.1:c.757A>T
ENST00000260947.8:c.915A>T	ENSP00000260947.4:p.Lys305Asn
ENST00000421162.1:c.215+16102A>T	ENSP00000392245.1:n.215+16102A>T
ENST00000455743.5:c.*535A>T	ENSP00000412186.1:n.*535A>T
ENST00000471787.1:n.810A>T
ENST00000613192.1:c.73+28453A>T	ENSP00000483275.1:n.73+28453A>T
ENST00000613374.4:c.159-28404A>T	ENSP00000484464.1:n.159-28404A>T
ENST00000613706.4:c.215+16102A>T	ENSP00000484976.1:n.215+16102A>T
ENST00000617164.4:c.858A>T	ENSP00000480470.1:p.Lys286Asn
ENST00000619009.4:c.364+11338A>T	ENSP00000482293.1:n.364+11338A>T
ENST00000620057.4:c.364+11338A>T	ENSP00000481988.1:n.364+11338A>T
NM_000465.3:c.915A>T	NP_000456.2:p.Lys305Asn
NM_001282543.1:c.858A>T	NP_001269472.1:p.Lys286Asn
NM_001282545.1:c.215+16102A>T	NP_001269474.1:n.215+16102A>T
NM_001282548.1:c.159-28404A>T	NP_001269477.1:n.159-28404A>T
NM_001282549.1:c.364+11338A>T	NP_001269478.1:n.364+11338A>T
NR_104212.1:n.908A>T
NR_104215.1:n.851A>T
NR_104216.1:n.506+11338A>T
XM_011511567.1:c.861A>T	XP_011509869.1:p.Lys287Asn
XM_011511568.1:c.915A>T	XP_011509870.1:p.Lys305Asn
XM_017004613.1:c.1014A>T	XP_016860102.1:p.Lys338Asn
XM_017004614.1:c.1014A>T	XP_016860103.1:p.Lys338Asn
XR_002959322.1:n.1105A>T
NM_000465.4:c.915A>T MANE Select	NP_000456.2:p.Lys305Asn
NM_001282543.2:c.858A>T	NP_001269472.1:p.Lys286Asn
NM_001282545.2:c.215+16102A>T	NP_001269474.1:n.215+16102A>T
NM_001282548.2:c.159-28404A>T	NP_001269477.1:n.159-28404A>T
NM_001282549.2:c.364+11338A>T	NP_001269478.1:n.364+11338A>T
NR_104212.2:n.880A>T
NR_104215.2:n.823A>T
NR_104216.2:n.478+11338A>T