Canonical Allele Identifier: CA350450036

Gene: BARD1

Linked Data

• ClinVar Variation Id: 959301
• ClinVar RCV Id: RCV001232622 ; RCV002429994
• dbSNP Id: rs1574702322
• gnomAD v4: 2-214728771-G-C
• MyVariant Identifiers: chr2:g.215593495G>C (hg19) ; chr2:g.214728771G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728771G>C , CM000664.2:g.214728771G>C	GRCh38
NC_000002.11:g.215593495G>C , CM000664.1:g.215593495G>C	GRCh37
NC_000002.10:g.215301740G>C	NCBI36
NG_012047.2:g.85934C>G
NG_012047.3:g.85941C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2239C>G MANE Select	ENSP00000260947.4:p.Pro747Ala
ENST00000421162.2:c.886C>G	ENSP00000392245.2:p.Pro296Ala
ENST00000613192.2:c.*302C>G	ENSP00000483275.2:n.*302C>G
ENST00000613374.5:c.829C>G	ENSP00000484464.1:p.Pro277Ala
ENST00000613706.5:c.1831C>G	ENSP00000484976.2:p.Pro611Ala
ENST00000617164.5:c.2182C>G	ENSP00000480470.1:p.Pro728Ala
ENST00000619009.5:c.700C>G	ENSP00000482293.1:p.Pro234Ala
ENST00000650978.1:c.3614C>G
ENST00000260947.8:c.2239C>G	ENSP00000260947.4:p.Pro747Ala
ENST00000432456.5:c.382C>G
ENST00000455743.5:c.*1859C>G	ENSP00000412186.1:n.*1859C>G
ENST00000471590.5:n.574C>G
ENST00000613192.1:c.409C>G	ENSP00000483275.1:p.Pro137Ala
ENST00000613374.4:c.829C>G	ENSP00000484464.1:p.Pro277Ala
ENST00000613706.4:c.886C>G	ENSP00000484976.1:p.Pro296Ala
ENST00000617164.4:c.2182C>G	ENSP00000480470.1:p.Pro728Ala
ENST00000619009.4:c.700C>G	ENSP00000482293.1:p.Pro234Ala
ENST00000620057.4:c.*905C>G	ENSP00000481988.1:n.*905C>G
NM_000465.3:c.2239C>G	NP_000456.2:p.Pro747Ala
NM_001282543.1:c.2182C>G	NP_001269472.1:p.Pro728Ala
NM_001282545.1:c.886C>G	NP_001269474.1:p.Pro296Ala
NM_001282548.1:c.829C>G	NP_001269477.1:p.Pro277Ala
NM_001282549.1:c.700C>G	NP_001269478.1:p.Pro234Ala
NR_104212.1:n.2232C>G
NR_104215.1:n.2175C>G
NR_104216.1:n.1431C>G
XM_011511567.1:c.2185C>G	XP_011509869.1:p.Pro729Ala
XM_017004613.1:c.2338C>G	XP_016860102.1:p.Pro780Ala
XR_002959322.1:n.2605C>G
NM_000465.4:c.2239C>G MANE Select	NP_000456.2:p.Pro747Ala
NM_001282543.2:c.2182C>G	NP_001269472.1:p.Pro728Ala
NM_001282545.2:c.886C>G	NP_001269474.1:p.Pro296Ala
NM_001282548.2:c.829C>G	NP_001269477.1:p.Pro277Ala
NM_001282549.2:c.700C>G	NP_001269478.1:p.Pro234Ala
NR_104212.2:n.2204C>G
NR_104215.2:n.2147C>G
NR_104216.2:n.1403C>G