Canonical Allele Identifier: CA350450033

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1476766
• ClinVar RCV Id: RCV001978110 ; RCV002425365
• dbSNP Id: rs1574702322
• gnomAD v3: 2-214728771-G-T
• gnomAD v4: 2-214728771-G-T
• MyVariant Identifiers: chr2:g.215593495G>T (hg19) ; chr2:g.214728771G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2239C>A MANE Select	ENSP00000260947.4:p.Pro747Thr
ENST00000421162.2:c.886C>A	ENSP00000392245.2:p.Pro296Thr
ENST00000613192.2:c.*302C>A	ENSP00000483275.2:n.*302C>A
ENST00000613374.5:c.829C>A	ENSP00000484464.1:p.Pro277Thr
ENST00000613706.5:c.1831C>A	ENSP00000484976.2:p.Pro611Thr
ENST00000617164.5:c.2182C>A	ENSP00000480470.1:p.Pro728Thr
ENST00000619009.5:c.700C>A	ENSP00000482293.1:p.Pro234Thr
ENST00000650978.1:c.3614C>A
ENST00000260947.8:c.2239C>A	ENSP00000260947.4:p.Pro747Thr
ENST00000432456.5:c.382C>A
ENST00000455743.5:c.*1859C>A	ENSP00000412186.1:n.*1859C>A
ENST00000471590.5:n.574C>A
ENST00000613192.1:c.409C>A	ENSP00000483275.1:p.Pro137Thr
ENST00000613374.4:c.829C>A	ENSP00000484464.1:p.Pro277Thr
ENST00000613706.4:c.886C>A	ENSP00000484976.1:p.Pro296Thr
ENST00000617164.4:c.2182C>A	ENSP00000480470.1:p.Pro728Thr
ENST00000619009.4:c.700C>A	ENSP00000482293.1:p.Pro234Thr
ENST00000620057.4:c.*905C>A	ENSP00000481988.1:n.*905C>A
NM_000465.3:c.2239C>A	NP_000456.2:p.Pro747Thr
NM_001282543.1:c.2182C>A	NP_001269472.1:p.Pro728Thr
NM_001282545.1:c.886C>A	NP_001269474.1:p.Pro296Thr
NM_001282548.1:c.829C>A	NP_001269477.1:p.Pro277Thr
NM_001282549.1:c.700C>A	NP_001269478.1:p.Pro234Thr
NR_104212.1:n.2232C>A
NR_104215.1:n.2175C>A
NR_104216.1:n.1431C>A
XM_011511567.1:c.2185C>A	XP_011509869.1:p.Pro729Thr
XM_017004613.1:c.2338C>A	XP_016860102.1:p.Pro780Thr
XR_002959322.1:n.2605C>A
NM_000465.4:c.2239C>A MANE Select	NP_000456.2:p.Pro747Thr
NM_001282543.2:c.2182C>A	NP_001269472.1:p.Pro728Thr
NM_001282545.2:c.886C>A	NP_001269474.1:p.Pro296Thr
NM_001282548.2:c.829C>A	NP_001269477.1:p.Pro277Thr
NM_001282549.2:c.700C>A	NP_001269478.1:p.Pro234Thr
NR_104212.2:n.2204C>A
NR_104215.2:n.2147C>A
NR_104216.2:n.1403C>A