Canonical Allele Identifier: CA167407

Gene: BARD1

Linked Data

• ClinVar Variation Id: 142103
• ClinVar RCV Id: RCV000130935 ; RCV001052441
• dbSNP Id: rs587782235
• MyVariant Identifiers: chr2:g.215609831C>A (hg19) ; chr2:g.214745107C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745107C>A , CM000664.2:g.214745107C>A	GRCh38
NC_000002.11:g.215609831C>A , CM000664.1:g.215609831C>A	GRCh37
NC_000002.10:g.215318076C>A	NCBI36
NG_012047.2:g.69598G>T
NG_012047.3:g.69605G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1863G>T MANE Select	ENSP00000260947.4:p.Met621Ile
ENST00000421162.2:c.510G>T	ENSP00000392245.2:p.Met170Ile
ENST00000613192.2:c.159-14599G>T	ENSP00000483275.2:n.159-14599G>T
ENST00000613374.5:c.453G>T	ENSP00000484464.1:p.Met151Ile
ENST00000613706.5:c.1455G>T	ENSP00000484976.2:p.Met485Ile
ENST00000617164.5:c.1806G>T	ENSP00000480470.1:p.Met602Ile
ENST00000619009.5:c.365-14599G>T	ENSP00000482293.1:n.365-14599G>T
ENST00000650978.1:c.3238G>T
ENST00000260947.8:c.1863G>T	ENSP00000260947.4:p.Met621Ile
ENST00000421162.1:c.510G>T	ENSP00000392245.1:p.Met170Ile
ENST00000455743.5:c.*1483G>T	ENSP00000412186.1:n.*1483G>T
ENST00000613192.1:c.74-14599G>T	ENSP00000483275.1:n.74-14599G>T
ENST00000613374.4:c.453G>T	ENSP00000484464.1:p.Met151Ile
ENST00000613706.4:c.510G>T	ENSP00000484976.1:p.Met170Ile
ENST00000617164.4:c.1806G>T	ENSP00000480470.1:p.Met602Ile
ENST00000619009.4:c.365-14599G>T	ENSP00000482293.1:n.365-14599G>T
ENST00000620057.4:c.*529G>T	ENSP00000481988.1:n.*529G>T
NM_000465.3:c.1863G>T	NP_000456.2:p.Met621Ile
NM_001282543.1:c.1806G>T	NP_001269472.1:p.Met602Ile
NM_001282545.1:c.510G>T	NP_001269474.1:p.Met170Ile
NM_001282548.1:c.453G>T	NP_001269477.1:p.Met151Ile
NM_001282549.1:c.365-14599G>T	NP_001269478.1:n.365-14599G>T
NR_104212.1:n.1856G>T
NR_104215.1:n.1799G>T
NR_104216.1:n.1055G>T
XM_011511567.1:c.1809G>T	XP_011509869.1:p.Met603Ile
XM_011511568.1:c.1863G>T	XP_011509870.1:p.Met621Ile
XM_017004613.1:c.1962G>T	XP_016860102.1:p.Met654Ile
XM_017004614.1:c.1962G>T	XP_016860103.1:p.Met654Ile
XR_002959322.1:n.2053G>T
NM_000465.4:c.1863G>T MANE Select	NP_000456.2:p.Met621Ile
NM_001282543.2:c.1806G>T	NP_001269472.1:p.Met602Ile
NM_001282545.2:c.510G>T	NP_001269474.1:p.Met170Ile
NM_001282548.2:c.453G>T	NP_001269477.1:p.Met151Ile
NM_001282549.2:c.365-14599G>T	NP_001269478.1:n.365-14599G>T
NR_104212.2:n.1828G>T
NR_104215.2:n.1771G>T
NR_104216.2:n.1027G>T