Canonical Allele Identifier: CA350452521

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215610454T>G (hg19) ; chr2:g.214745730T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745730T>G , CM000664.2:g.214745730T>G	GRCh38
NC_000002.11:g.215610454T>G , CM000664.1:g.215610454T>G	GRCh37
NC_000002.10:g.215318699T>G	NCBI36
NG_012047.2:g.68975A>C
NG_012047.3:g.68982A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1802A>C MANE Select	ENSP00000260947.4:p.Asp601Ala
ENST00000421162.2:c.449A>C	ENSP00000392245.2:p.Asp150Ala
ENST00000613192.2:c.159-15222A>C	ENSP00000483275.2:n.159-15222A>C
ENST00000613374.5:c.392A>C	ENSP00000484464.1:p.Asp131Ala
ENST00000613706.5:c.1394A>C	ENSP00000484976.2:p.Asp465Ala
ENST00000617164.5:c.1745A>C	ENSP00000480470.1:p.Asp582Ala
ENST00000619009.5:c.365-15222A>C	ENSP00000482293.1:n.365-15222A>C
ENST00000650978.1:c.3177A>C
ENST00000260947.8:c.1802A>C	ENSP00000260947.4:p.Asp601Ala
ENST00000421162.1:c.449A>C	ENSP00000392245.1:p.Asp150Ala
ENST00000455743.5:c.*1422A>C	ENSP00000412186.1:n.*1422A>C
ENST00000465841.1:n.157A>C
ENST00000613192.1:c.74-15222A>C	ENSP00000483275.1:n.74-15222A>C
ENST00000613374.4:c.392A>C	ENSP00000484464.1:p.Asp131Ala
ENST00000613706.4:c.449A>C	ENSP00000484976.1:p.Asp150Ala
ENST00000617164.4:c.1745A>C	ENSP00000480470.1:p.Asp582Ala
ENST00000619009.4:c.365-15222A>C	ENSP00000482293.1:n.365-15222A>C
ENST00000620057.4:c.*468A>C	ENSP00000481988.1:n.*468A>C
NM_000465.3:c.1802A>C	NP_000456.2:p.Asp601Ala
NM_001282543.1:c.1745A>C	NP_001269472.1:p.Asp582Ala
NM_001282545.1:c.449A>C	NP_001269474.1:p.Asp150Ala
NM_001282548.1:c.392A>C	NP_001269477.1:p.Asp131Ala
NM_001282549.1:c.365-15222A>C	NP_001269478.1:n.365-15222A>C
NR_104212.1:n.1795A>C
NR_104215.1:n.1738A>C
NR_104216.1:n.994A>C
XM_011511567.1:c.1748A>C	XP_011509869.1:p.Asp583Ala
XM_011511568.1:c.1802A>C	XP_011509870.1:p.Asp601Ala
XM_017004613.1:c.1901A>C	XP_016860102.1:p.Asp634Ala
XM_017004614.1:c.1901A>C	XP_016860103.1:p.Asp634Ala
XR_002959322.1:n.1992A>C
NM_000465.4:c.1802A>C MANE Select	NP_000456.2:p.Asp601Ala
NM_001282543.2:c.1745A>C	NP_001269472.1:p.Asp582Ala
NM_001282545.2:c.449A>C	NP_001269474.1:p.Asp150Ala
NM_001282548.2:c.392A>C	NP_001269477.1:p.Asp131Ala
NM_001282549.2:c.365-15222A>C	NP_001269478.1:n.365-15222A>C
NR_104212.2:n.1767A>C
NR_104215.2:n.1710A>C
NR_104216.2:n.966A>C