Canonical Allele Identifier: CA350460940

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2573185
• ClinVar RCV Id: RCV003315490
• MyVariant Identifiers: chr2:g.215657072T>C (hg19) ; chr2:g.214792348T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792348T>C , CM000664.2:g.214792348T>C	GRCh38
NC_000002.11:g.215657072T>C , CM000664.1:g.215657072T>C	GRCh37
NC_000002.10:g.215365317T>C	NCBI36
NG_012047.2:g.22357A>G
NG_012047.3:g.22364A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.313A>G MANE Select	ENSP00000260947.4:p.Ile105Val
ENST00000421162.2:c.215+4713A>G	ENSP00000392245.2:n.215+4713A>G
ENST00000613192.2:c.158+17064A>G	ENSP00000483275.2:n.158+17064A>G
ENST00000613374.5:c.158+17064A>G	ENSP00000484464.1:n.158+17064A>G
ENST00000613706.5:c.313A>G	ENSP00000484976.2:p.Ile105Val
ENST00000617164.5:c.256A>G	ENSP00000480470.1:p.Ile86Val
ENST00000619009.5:c.313A>G	ENSP00000482293.1:p.Ile105Val
ENST00000650978.1:c.155A>G
ENST00000260947.8:c.313A>G	ENSP00000260947.4:p.Ile105Val
ENST00000421162.1:c.215+4713A>G	ENSP00000392245.1:n.215+4713A>G
ENST00000455743.5:c.215+4713A>G	ENSP00000412186.1:n.215+4713A>G
ENST00000471787.1:n.260-10839A>G
ENST00000613192.1:c.73+17064A>G	ENSP00000483275.1:n.73+17064A>G
ENST00000613374.4:c.158+17064A>G	ENSP00000484464.1:n.158+17064A>G
ENST00000613706.4:c.215+4713A>G	ENSP00000484976.1:n.215+4713A>G
ENST00000617164.4:c.256A>G	ENSP00000480470.1:p.Ile86Val
ENST00000619009.4:c.313A>G	ENSP00000482293.1:p.Ile105Val
ENST00000620057.4:c.313A>G	ENSP00000481988.1:p.Ile105Val
NM_000465.3:c.313A>G	NP_000456.2:p.Ile105Val
NM_001282543.1:c.256A>G	NP_001269472.1:p.Ile86Val
NM_001282545.1:c.215+4713A>G	NP_001269474.1:n.215+4713A>G
NM_001282548.1:c.158+17064A>G	NP_001269477.1:n.158+17064A>G
NM_001282549.1:c.313A>G	NP_001269478.1:p.Ile105Val
NR_104212.1:n.357+4713A>G
NR_104215.1:n.301-10839A>G
NR_104216.1:n.455A>G
XM_011511567.1:c.259A>G	XP_011509869.1:p.Ile87Val
XM_011511568.1:c.313A>G	XP_011509870.1:p.Ile105Val
XM_017004613.1:c.412A>G	XP_016860102.1:p.Ile138Val
XM_017004614.1:c.412A>G	XP_016860103.1:p.Ile138Val
XR_002959322.1:n.503A>G
NM_000465.4:c.313A>G MANE Select	NP_000456.2:p.Ile105Val
NM_001282543.2:c.256A>G	NP_001269472.1:p.Ile86Val
NM_001282545.2:c.215+4713A>G	NP_001269474.1:n.215+4713A>G
NM_001282548.2:c.158+17064A>G	NP_001269477.1:n.158+17064A>G
NM_001282549.2:c.313A>G	NP_001269478.1:p.Ile105Val
NR_104212.2:n.329+4713A>G
NR_104215.2:n.273-10839A>G
NR_104216.2:n.427A>G