Canonical Allele Identifier: CA350450359

Gene: BARD1

Linked Data

• dbSNP Id: rs730881424
• MyVariant Identifiers: chr2:g.215593555C>G (hg19) ; chr2:g.214728831C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728831C>G , CM000664.2:g.214728831C>G	GRCh38
NC_000002.11:g.215593555C>G , CM000664.1:g.215593555C>G	GRCh37
NC_000002.10:g.215301800C>G	NCBI36
NG_012047.2:g.85874G>C
NG_012047.3:g.85881G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2179G>C MANE Select	ENSP00000260947.4:p.Asp727His
ENST00000421162.2:c.826G>C	ENSP00000392245.2:p.Asp276His
ENST00000613192.2:c.*242G>C	ENSP00000483275.2:n.*242G>C
ENST00000613374.5:c.769G>C	ENSP00000484464.1:p.Asp257His
ENST00000613706.5:c.1771G>C	ENSP00000484976.2:p.Asp591His
ENST00000617164.5:c.2122G>C	ENSP00000480470.1:p.Asp708His
ENST00000619009.5:c.640G>C	ENSP00000482293.1:p.Asp214His
ENST00000650978.1:c.3554G>C
ENST00000260947.8:c.2179G>C	ENSP00000260947.4:p.Asp727His
ENST00000432456.5:c.322G>C
ENST00000455743.5:c.*1799G>C	ENSP00000412186.1:n.*1799G>C
ENST00000471590.5:n.514G>C
ENST00000613192.1:c.349G>C	ENSP00000483275.1:p.Asp117His
ENST00000613374.4:c.769G>C	ENSP00000484464.1:p.Asp257His
ENST00000613706.4:c.826G>C	ENSP00000484976.1:p.Asp276His
ENST00000617164.4:c.2122G>C	ENSP00000480470.1:p.Asp708His
ENST00000619009.4:c.640G>C	ENSP00000482293.1:p.Asp214His
ENST00000620057.4:c.*845G>C	ENSP00000481988.1:n.*845G>C
NM_000465.3:c.2179G>C	NP_000456.2:p.Asp727His
NM_001282543.1:c.2122G>C	NP_001269472.1:p.Asp708His
NM_001282545.1:c.826G>C	NP_001269474.1:p.Asp276His
NM_001282548.1:c.769G>C	NP_001269477.1:p.Asp257His
NM_001282549.1:c.640G>C	NP_001269478.1:p.Asp214His
NR_104212.1:n.2172G>C
NR_104215.1:n.2115G>C
NR_104216.1:n.1371G>C
XM_011511567.1:c.2125G>C	XP_011509869.1:p.Asp709His
XM_017004613.1:c.2278G>C	XP_016860102.1:p.Asp760His
XR_002959322.1:n.2545G>C
NM_000465.4:c.2179G>C MANE Select	NP_000456.2:p.Asp727His
NM_001282543.2:c.2122G>C	NP_001269472.1:p.Asp708His
NM_001282545.2:c.826G>C	NP_001269474.1:p.Asp276His
NM_001282548.2:c.769G>C	NP_001269477.1:p.Asp257His
NM_001282549.2:c.640G>C	NP_001269478.1:p.Asp214His
NR_104212.2:n.2144G>C
NR_104215.2:n.2087G>C
NR_104216.2:n.1343G>C