Canonical Allele Identifier: CA431147804

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2585699
• ClinVar RCV Id: RCV003368090
• gnomAD v4: 2-214752498-T-A
• MyVariant Identifiers: chr2:g.215617222T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752498T>A , CM000664.2:g.214752498T>A	GRCh38
NC_000002.11:g.215617222T>A , CM000664.1:g.215617222T>A	GRCh37
NC_000002.10:g.215325467T>A	NCBI36
NG_012047.2:g.62207A>T
NG_012047.3:g.62214A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1626A>T MANE Select	ENSP00000260947.4:p.Leu542=
ENST00000421162.2:c.273A>T	ENSP00000392245.2:p.Leu91=
ENST00000613192.2:c.159-21990A>T	ENSP00000483275.2:n.159-21990A>T
ENST00000613374.5:c.216A>T	ENSP00000484464.1:p.Leu72=
ENST00000613706.5:c.1218A>T	ENSP00000484976.2:p.Leu406=
ENST00000617164.5:c.1569A>T	ENSP00000480470.1:p.Leu523=
ENST00000619009.5:c.365-21990A>T	ENSP00000482293.1:n.365-21990A>T
ENST00000650978.1:c.3001A>T
ENST00000260947.8:c.1626A>T	ENSP00000260947.4:p.Leu542=
ENST00000421162.1:c.273A>T	ENSP00000392245.1:p.Leu91=
ENST00000455743.5:c.*1246A>T	ENSP00000412186.1:n.*1246A>T
ENST00000613192.1:c.74-21990A>T	ENSP00000483275.1:n.74-21990A>T
ENST00000613374.4:c.216A>T	ENSP00000484464.1:p.Leu72=
ENST00000613706.4:c.273A>T	ENSP00000484976.1:p.Leu91=
ENST00000617164.4:c.1569A>T	ENSP00000480470.1:p.Leu523=
ENST00000619009.4:c.365-21990A>T	ENSP00000482293.1:n.365-21990A>T
ENST00000620057.4:c.*292A>T	ENSP00000481988.1:n.*292A>T
NM_000465.3:c.1626A>T	NP_000456.2:p.Leu542=
NM_001282543.1:c.1569A>T	NP_001269472.1:p.Leu523=
NM_001282545.1:c.273A>T	NP_001269474.1:p.Leu91=
NM_001282548.1:c.216A>T	NP_001269477.1:p.Leu72=
NM_001282549.1:c.365-21990A>T	NP_001269478.1:n.365-21990A>T
NR_104212.1:n.1619A>T
NR_104215.1:n.1562A>T
NR_104216.1:n.818A>T
XM_011511567.1:c.1572A>T	XP_011509869.1:p.Leu524=
XM_011511568.1:c.1626A>T	XP_011509870.1:p.Leu542=
XM_017004613.1:c.1725A>T	XP_016860102.1:p.Leu575=
XM_017004614.1:c.1725A>T	XP_016860103.1:p.Leu575=
XR_002959322.1:n.1816A>T
NM_000465.4:c.1626A>T MANE Select	NP_000456.2:p.Leu542=
NM_001282543.2:c.1569A>T	NP_001269472.1:p.Leu523=
NM_001282545.2:c.273A>T	NP_001269474.1:p.Leu91=
NM_001282548.2:c.216A>T	NP_001269477.1:p.Leu72=
NM_001282549.2:c.365-21990A>T	NP_001269478.1:n.365-21990A>T
NR_104212.2:n.1591A>T
NR_104215.2:n.1534A>T
NR_104216.2:n.790A>T