Canonical Allele Identifier: CA539837268

Gene: BARD1

Linked Data

• dbSNP Id: rs1373689789
• gnomAD v2: 2-215593350-C-T
• gnomAD v3: 2-214728626-C-T
• gnomAD v4: 2-214728626-C-T
• MyVariant Identifiers: chr2:g.215593350C>T (hg19) ; chr2:g.214728626C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728626C>T , CM000664.2:g.214728626C>T	GRCh38
NC_000002.11:g.215593350C>T , CM000664.1:g.215593350C>T	GRCh37
NC_000002.10:g.215301595C>T	NCBI36
NG_012047.2:g.86079G>A
NG_012047.3:g.86086G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*50G>A MANE Select	ENSP00000260947.4:n.*50G>A
ENST00000613374.5:c.*50G>A	ENSP00000484464.1:n.*50G>A
ENST00000613706.5:c.*50G>A	ENSP00000484976.2:n.*50G>A
ENST00000617164.5:c.*50G>A	ENSP00000480470.1:n.*50G>A
ENST00000619009.5:c.*50G>A	ENSP00000482293.1:n.*50G>A
ENST00000650978.1:c.3759G>A
ENST00000260947.8:c.*50G>A	ENSP00000260947.4:n.*50G>A
ENST00000432456.5:c.527G>A
ENST00000471590.5:n.719G>A
ENST00000613374.4:c.*50G>A	ENSP00000484464.1:n.*50G>A
ENST00000613706.4:c.*50G>A	ENSP00000484976.1:n.*50G>A
ENST00000617164.4:c.*50G>A	ENSP00000480470.1:n.*50G>A
ENST00000619009.4:c.*50G>A	ENSP00000482293.1:n.*50G>A
NM_000465.3:c.*50G>A	NP_000456.2:n.*50G>A
NM_001282543.1:c.*50G>A	NP_001269472.1:n.*50G>A
NM_001282545.1:c.*50G>A	NP_001269474.1:n.*50G>A
NM_001282548.1:c.*50G>A	NP_001269477.1:n.*50G>A
NM_001282549.1:c.*50G>A	NP_001269478.1:n.*50G>A
NR_104212.1:n.2377G>A
NR_104215.1:n.2320G>A
NR_104216.1:n.1576G>A
XM_011511567.1:c.*50G>A	XP_011509869.1:n.*50G>A
XM_017004613.1:c.*50G>A	XP_016860102.1:n.*50G>A
XR_002959322.1:n.2750G>A
NM_000465.4:c.*50G>A MANE Select	NP_000456.2:n.*50G>A
NM_001282543.2:c.*50G>A	NP_001269472.1:n.*50G>A
NM_001282545.2:c.*50G>A	NP_001269474.1:n.*50G>A
NM_001282548.2:c.*50G>A	NP_001269477.1:n.*50G>A
NM_001282549.2:c.*50G>A	NP_001269478.1:n.*50G>A
NR_104212.2:n.2349G>A
NR_104215.2:n.2292G>A
NR_104216.2:n.1548G>A