Canonical Allele Identifier: CA350450037

Gene: BARD1

Linked Data

• ClinVar Variation Id: 960790
• ClinVar RCV Id: RCV001234383
• dbSNP Id: rs1574702322
• MyVariant Identifiers: chr2:g.215593495G>A (hg19) ; chr2:g.214728771G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.2239C>T MANE Select	ENSP00000260947.4:p.Pro747Ser
ENST00000421162.2:c.886C>T	ENSP00000392245.2:p.Pro296Ser
ENST00000613192.2:c.*302C>T	ENSP00000483275.2:n.*302C>T
ENST00000613374.5:c.829C>T	ENSP00000484464.1:p.Pro277Ser
ENST00000613706.5:c.1831C>T	ENSP00000484976.2:p.Pro611Ser
ENST00000617164.5:c.2182C>T	ENSP00000480470.1:p.Pro728Ser
ENST00000619009.5:c.700C>T	ENSP00000482293.1:p.Pro234Ser
ENST00000650978.1:c.3614C>T
ENST00000260947.8:c.2239C>T	ENSP00000260947.4:p.Pro747Ser
ENST00000432456.5:c.382C>T
ENST00000455743.5:c.*1859C>T	ENSP00000412186.1:n.*1859C>T
ENST00000471590.5:n.574C>T
ENST00000613192.1:c.409C>T	ENSP00000483275.1:p.Pro137Ser
ENST00000613374.4:c.829C>T	ENSP00000484464.1:p.Pro277Ser
ENST00000613706.4:c.886C>T	ENSP00000484976.1:p.Pro296Ser
ENST00000617164.4:c.2182C>T	ENSP00000480470.1:p.Pro728Ser
ENST00000619009.4:c.700C>T	ENSP00000482293.1:p.Pro234Ser
ENST00000620057.4:c.*905C>T	ENSP00000481988.1:n.*905C>T
NM_000465.3:c.2239C>T	NP_000456.2:p.Pro747Ser
NM_001282543.1:c.2182C>T	NP_001269472.1:p.Pro728Ser
NM_001282545.1:c.886C>T	NP_001269474.1:p.Pro296Ser
NM_001282548.1:c.829C>T	NP_001269477.1:p.Pro277Ser
NM_001282549.1:c.700C>T	NP_001269478.1:p.Pro234Ser
NR_104212.1:n.2232C>T
NR_104215.1:n.2175C>T
NR_104216.1:n.1431C>T
XM_011511567.1:c.2185C>T	XP_011509869.1:p.Pro729Ser
XM_017004613.1:c.2338C>T	XP_016860102.1:p.Pro780Ser
XR_002959322.1:n.2605C>T
NM_000465.4:c.2239C>T MANE Select	NP_000456.2:p.Pro747Ser
NM_001282543.2:c.2182C>T	NP_001269472.1:p.Pro728Ser
NM_001282545.2:c.886C>T	NP_001269474.1:p.Pro296Ser
NM_001282548.2:c.829C>T	NP_001269477.1:p.Pro277Ser
NM_001282549.2:c.700C>T	NP_001269478.1:p.Pro234Ser
NR_104212.2:n.2204C>T
NR_104215.2:n.2147C>T
NR_104216.2:n.1403C>T