Canonical Allele Identifier: CA2090043

Gene: BARD1

Linked Data

• dbSNP Id: rs748565548
• ExAC: 2:215593375 T / A
• gnomAD v2: 2-215593375-T-A
• gnomAD v4: 2-214728651-T-A
• MyVariant Identifiers: chr2:g.215593375T>A (hg19) ; chr2:g.214728651T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728651T>A , CM000664.2:g.214728651T>A	GRCh38
NC_000002.11:g.215593375T>A , CM000664.1:g.215593375T>A	GRCh37
NC_000002.10:g.215301620T>A	NCBI36
NG_012047.2:g.86054A>T
NG_012047.3:g.86061A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*25A>T MANE Select	ENSP00000260947.4:n.*25A>T
ENST00000613374.5:c.*25A>T	ENSP00000484464.1:n.*25A>T
ENST00000613706.5:c.*25A>T	ENSP00000484976.2:n.*25A>T
ENST00000617164.5:c.*25A>T	ENSP00000480470.1:n.*25A>T
ENST00000619009.5:c.*25A>T	ENSP00000482293.1:n.*25A>T
ENST00000650978.1:c.3734A>T
ENST00000260947.8:c.*25A>T	ENSP00000260947.4:n.*25A>T
ENST00000432456.5:c.502A>T
ENST00000471590.5:n.694A>T
ENST00000613374.4:c.*25A>T	ENSP00000484464.1:n.*25A>T
ENST00000613706.4:c.*25A>T	ENSP00000484976.1:n.*25A>T
ENST00000617164.4:c.*25A>T	ENSP00000480470.1:n.*25A>T
ENST00000619009.4:c.*25A>T	ENSP00000482293.1:n.*25A>T
NM_000465.3:c.*25A>T	NP_000456.2:n.*25A>T
NM_001282543.1:c.*25A>T	NP_001269472.1:n.*25A>T
NM_001282545.1:c.*25A>T	NP_001269474.1:n.*25A>T
NM_001282548.1:c.*25A>T	NP_001269477.1:n.*25A>T
NM_001282549.1:c.*25A>T	NP_001269478.1:n.*25A>T
NR_104212.1:n.2352A>T
NR_104215.1:n.2295A>T
NR_104216.1:n.1551A>T
XM_011511567.1:c.*25A>T	XP_011509869.1:n.*25A>T
XM_017004613.1:c.*25A>T	XP_016860102.1:n.*25A>T
XR_002959322.1:n.2725A>T
NM_000465.4:c.*25A>T MANE Select	NP_000456.2:n.*25A>T
NM_001282543.2:c.*25A>T	NP_001269472.1:n.*25A>T
NM_001282545.2:c.*25A>T	NP_001269474.1:n.*25A>T
NM_001282548.2:c.*25A>T	NP_001269477.1:n.*25A>T
NM_001282549.2:c.*25A>T	NP_001269478.1:n.*25A>T
NR_104212.2:n.2324A>T
NR_104215.2:n.2267A>T
NR_104216.2:n.1523A>T