Canonical Allele Identifier: CA431147686

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215617189T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752465T>A , CM000664.2:g.214752465T>A	GRCh38
NC_000002.11:g.215617189T>A , CM000664.1:g.215617189T>A	GRCh37
NC_000002.10:g.215325434T>A	NCBI36
NG_012047.2:g.62240A>T
NG_012047.3:g.62247A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1659A>T MANE Select	ENSP00000260947.4:p.Ser553=
ENST00000421162.2:c.306A>T	ENSP00000392245.2:p.Ser102=
ENST00000613192.2:c.159-21957A>T	ENSP00000483275.2:n.159-21957A>T
ENST00000613374.5:c.249A>T	ENSP00000484464.1:p.Ser83=
ENST00000613706.5:c.1251A>T	ENSP00000484976.2:p.Ser417=
ENST00000617164.5:c.1602A>T	ENSP00000480470.1:p.Ser534=
ENST00000619009.5:c.365-21957A>T	ENSP00000482293.1:n.365-21957A>T
ENST00000650978.1:c.3034A>T
ENST00000260947.8:c.1659A>T	ENSP00000260947.4:p.Ser553=
ENST00000421162.1:c.306A>T	ENSP00000392245.1:p.Ser102=
ENST00000455743.5:c.*1279A>T	ENSP00000412186.1:n.*1279A>T
ENST00000465841.1:n.14A>T
ENST00000613192.1:c.74-21957A>T	ENSP00000483275.1:n.74-21957A>T
ENST00000613374.4:c.249A>T	ENSP00000484464.1:p.Ser83=
ENST00000613706.4:c.306A>T	ENSP00000484976.1:p.Ser102=
ENST00000617164.4:c.1602A>T	ENSP00000480470.1:p.Ser534=
ENST00000619009.4:c.365-21957A>T	ENSP00000482293.1:n.365-21957A>T
ENST00000620057.4:c.*325A>T	ENSP00000481988.1:n.*325A>T
NM_000465.3:c.1659A>T	NP_000456.2:p.Ser553=
NM_001282543.1:c.1602A>T	NP_001269472.1:p.Ser534=
NM_001282545.1:c.306A>T	NP_001269474.1:p.Ser102=
NM_001282548.1:c.249A>T	NP_001269477.1:p.Ser83=
NM_001282549.1:c.365-21957A>T	NP_001269478.1:n.365-21957A>T
NR_104212.1:n.1652A>T
NR_104215.1:n.1595A>T
NR_104216.1:n.851A>T
XM_011511567.1:c.1605A>T	XP_011509869.1:p.Ser535=
XM_011511568.1:c.1659A>T	XP_011509870.1:p.Ser553=
XM_017004613.1:c.1758A>T	XP_016860102.1:p.Ser586=
XM_017004614.1:c.1758A>T	XP_016860103.1:p.Ser586=
XR_002959322.1:n.1849A>T
NM_000465.4:c.1659A>T MANE Select	NP_000456.2:p.Ser553=
NM_001282543.2:c.1602A>T	NP_001269472.1:p.Ser534=
NM_001282545.2:c.306A>T	NP_001269474.1:p.Ser102=
NM_001282548.2:c.249A>T	NP_001269477.1:p.Ser83=
NM_001282549.2:c.365-21957A>T	NP_001269478.1:n.365-21957A>T
NR_104212.2:n.1624A>T
NR_104215.2:n.1567A>T
NR_104216.2:n.823A>T