Canonical Allele Identifier: CA539837267

Gene: BARD1

Linked Data

• dbSNP Id: rs1374585805
• gnomAD v2: 2-215593341-A-G
• gnomAD v4: 2-214728617-A-G
• MyVariant Identifiers: chr2:g.215593341A>G (hg19) ; chr2:g.214728617A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728617A>G , CM000664.2:g.214728617A>G	GRCh38
NC_000002.11:g.215593341A>G , CM000664.1:g.215593341A>G	GRCh37
NC_000002.10:g.215301586A>G	NCBI36
NG_012047.2:g.86088T>C
NG_012047.3:g.86095T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*59T>C MANE Select	ENSP00000260947.4:n.*59T>C
ENST00000613374.5:c.*59T>C	ENSP00000484464.1:n.*59T>C
ENST00000613706.5:c.*59T>C	ENSP00000484976.2:n.*59T>C
ENST00000617164.5:c.*59T>C	ENSP00000480470.1:n.*59T>C
ENST00000619009.5:c.*59T>C	ENSP00000482293.1:n.*59T>C
ENST00000650978.1:c.3768T>C
ENST00000260947.8:c.*59T>C	ENSP00000260947.4:n.*59T>C
ENST00000432456.5:c.536T>C
ENST00000471590.5:n.728T>C
ENST00000613374.4:c.*59T>C	ENSP00000484464.1:n.*59T>C
ENST00000613706.4:c.*59T>C	ENSP00000484976.1:n.*59T>C
ENST00000617164.4:c.*59T>C	ENSP00000480470.1:n.*59T>C
ENST00000619009.4:c.*59T>C	ENSP00000482293.1:n.*59T>C
NM_000465.3:c.*59T>C	NP_000456.2:n.*59T>C
NM_001282543.1:c.*59T>C	NP_001269472.1:n.*59T>C
NM_001282545.1:c.*59T>C	NP_001269474.1:n.*59T>C
NM_001282548.1:c.*59T>C	NP_001269477.1:n.*59T>C
NM_001282549.1:c.*59T>C	NP_001269478.1:n.*59T>C
NR_104212.1:n.2386T>C
NR_104215.1:n.2329T>C
NR_104216.1:n.1585T>C
XM_011511567.1:c.*59T>C	XP_011509869.1:n.*59T>C
XM_017004613.1:c.*59T>C	XP_016860102.1:n.*59T>C
XR_002959322.1:n.2759T>C
NM_000465.4:c.*59T>C MANE Select	NP_000456.2:n.*59T>C
NM_001282543.2:c.*59T>C	NP_001269472.1:n.*59T>C
NM_001282545.2:c.*59T>C	NP_001269474.1:n.*59T>C
NM_001282548.2:c.*59T>C	NP_001269477.1:n.*59T>C
NM_001282549.2:c.*59T>C	NP_001269478.1:n.*59T>C
NR_104212.2:n.2358T>C
NR_104215.2:n.2301T>C
NR_104216.2:n.1557T>C