Canonical Allele Identifier: CA431145238

Gene: BARD1

Linked Data

• dbSNP Id: rs1375291069
• gnomAD v2: 2-215609858-A-G
• gnomAD v4: 2-214745134-A-G
• MyVariant Identifiers: chr2:g.215609858A>G (hg19) ; chr2:g.214745134A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745134A>G , CM000664.2:g.214745134A>G	GRCh38
NC_000002.11:g.215609858A>G , CM000664.1:g.215609858A>G	GRCh37
NC_000002.10:g.215318103A>G	NCBI36
NG_012047.2:g.69571T>C
NG_012047.3:g.69578T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1836T>C MANE Select	ENSP00000260947.4:p.Asp612=
ENST00000421162.2:c.483T>C	ENSP00000392245.2:p.Asp161=
ENST00000613192.2:c.159-14626T>C	ENSP00000483275.2:n.159-14626T>C
ENST00000613374.5:c.426T>C	ENSP00000484464.1:p.Asp142=
ENST00000613706.5:c.1428T>C	ENSP00000484976.2:p.Asp476=
ENST00000617164.5:c.1779T>C	ENSP00000480470.1:p.Asp593=
ENST00000619009.5:c.365-14626T>C	ENSP00000482293.1:n.365-14626T>C
ENST00000650978.1:c.3211T>C
ENST00000260947.8:c.1836T>C	ENSP00000260947.4:p.Asp612=
ENST00000421162.1:c.483T>C	ENSP00000392245.1:p.Asp161=
ENST00000455743.5:c.*1456T>C	ENSP00000412186.1:n.*1456T>C
ENST00000613192.1:c.74-14626T>C	ENSP00000483275.1:n.74-14626T>C
ENST00000613374.4:c.426T>C	ENSP00000484464.1:p.Asp142=
ENST00000613706.4:c.483T>C	ENSP00000484976.1:p.Asp161=
ENST00000617164.4:c.1779T>C	ENSP00000480470.1:p.Asp593=
ENST00000619009.4:c.365-14626T>C	ENSP00000482293.1:n.365-14626T>C
ENST00000620057.4:c.*502T>C	ENSP00000481988.1:n.*502T>C
NM_000465.3:c.1836T>C	NP_000456.2:p.Asp612=
NM_001282543.1:c.1779T>C	NP_001269472.1:p.Asp593=
NM_001282545.1:c.483T>C	NP_001269474.1:p.Asp161=
NM_001282548.1:c.426T>C	NP_001269477.1:p.Asp142=
NM_001282549.1:c.365-14626T>C	NP_001269478.1:n.365-14626T>C
NR_104212.1:n.1829T>C
NR_104215.1:n.1772T>C
NR_104216.1:n.1028T>C
XM_011511567.1:c.1782T>C	XP_011509869.1:p.Asp594=
XM_011511568.1:c.1836T>C	XP_011509870.1:p.Asp612=
XM_017004613.1:c.1935T>C	XP_016860102.1:p.Asp645=
XM_017004614.1:c.1935T>C	XP_016860103.1:p.Asp645=
XR_002959322.1:n.2026T>C
NM_000465.4:c.1836T>C MANE Select	NP_000456.2:p.Asp612=
NM_001282543.2:c.1779T>C	NP_001269472.1:p.Asp593=
NM_001282545.2:c.483T>C	NP_001269474.1:p.Asp161=
NM_001282548.2:c.426T>C	NP_001269477.1:p.Asp142=
NM_001282549.2:c.365-14626T>C	NP_001269478.1:n.365-14626T>C
NR_104212.2:n.1801T>C
NR_104215.2:n.1744T>C
NR_104216.2:n.1000T>C