Canonical Allele Identifier: CA2090455

Gene: BARD1

Linked Data

• dbSNP Id: rs752133770
• ExAC: 2:215657073 C / G
• gnomAD v2: 2-215657073-C-G
• gnomAD v4: 2-214792349-C-G
• COSMIC: COSM476870 ; COSM1136597
• MyVariant Identifiers: chr2:g.215657073C>G (hg19) ; chr2:g.214792349C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792349C>G , CM000664.2:g.214792349C>G	GRCh38
NC_000002.11:g.215657073C>G , CM000664.1:g.215657073C>G	GRCh37
NC_000002.10:g.215365318C>G	NCBI36
NG_012047.2:g.22356G>C
NG_012047.3:g.22363G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.312G>C MANE Select	ENSP00000260947.4:p.Met104Ile
ENST00000421162.2:c.215+4712G>C	ENSP00000392245.2:n.215+4712G>C
ENST00000613192.2:c.158+17063G>C	ENSP00000483275.2:n.158+17063G>C
ENST00000613374.5:c.158+17063G>C	ENSP00000484464.1:n.158+17063G>C
ENST00000613706.5:c.312G>C	ENSP00000484976.2:p.Met104Ile
ENST00000617164.5:c.255G>C	ENSP00000480470.1:p.Met85Ile
ENST00000619009.5:c.312G>C	ENSP00000482293.1:p.Met104Ile
ENST00000650978.1:c.154G>C
ENST00000260947.8:c.312G>C	ENSP00000260947.4:p.Met104Ile
ENST00000421162.1:c.215+4712G>C	ENSP00000392245.1:n.215+4712G>C
ENST00000455743.5:c.215+4712G>C	ENSP00000412186.1:n.215+4712G>C
ENST00000471787.1:n.260-10840G>C
ENST00000613192.1:c.73+17063G>C	ENSP00000483275.1:n.73+17063G>C
ENST00000613374.4:c.158+17063G>C	ENSP00000484464.1:n.158+17063G>C
ENST00000613706.4:c.215+4712G>C	ENSP00000484976.1:n.215+4712G>C
ENST00000617164.4:c.255G>C	ENSP00000480470.1:p.Met85Ile
ENST00000619009.4:c.312G>C	ENSP00000482293.1:p.Met104Ile
ENST00000620057.4:c.312G>C	ENSP00000481988.1:p.Met104Ile
NM_000465.3:c.312G>C	NP_000456.2:p.Met104Ile
NM_001282543.1:c.255G>C	NP_001269472.1:p.Met85Ile
NM_001282545.1:c.215+4712G>C	NP_001269474.1:n.215+4712G>C
NM_001282548.1:c.158+17063G>C	NP_001269477.1:n.158+17063G>C
NM_001282549.1:c.312G>C	NP_001269478.1:p.Met104Ile
NR_104212.1:n.357+4712G>C
NR_104215.1:n.301-10840G>C
NR_104216.1:n.454G>C
XM_011511567.1:c.258G>C	XP_011509869.1:p.Met86Ile
XM_011511568.1:c.312G>C	XP_011509870.1:p.Met104Ile
XM_017004613.1:c.411G>C	XP_016860102.1:p.Met137Ile
XM_017004614.1:c.411G>C	XP_016860103.1:p.Met137Ile
XR_002959322.1:n.502G>C
NM_000465.4:c.312G>C MANE Select	NP_000456.2:p.Met104Ile
NM_001282543.2:c.255G>C	NP_001269472.1:p.Met85Ile
NM_001282545.2:c.215+4712G>C	NP_001269474.1:n.215+4712G>C
NM_001282548.2:c.158+17063G>C	NP_001269477.1:n.158+17063G>C
NM_001282549.2:c.312G>C	NP_001269478.1:p.Met104Ile
NR_104212.2:n.329+4712G>C
NR_104215.2:n.273-10840G>C
NR_104216.2:n.426G>C