Canonical Allele Identifier: CA350452080

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215609806T>A (hg19) ; chr2:g.214745082T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745082T>A , CM000664.2:g.214745082T>A	GRCh38
NC_000002.11:g.215609806T>A , CM000664.1:g.215609806T>A	GRCh37
NC_000002.10:g.215318051T>A	NCBI36
NG_012047.2:g.69623A>T
NG_012047.3:g.69630A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1888A>T MANE Select	ENSP00000260947.4:p.Ile630Phe
ENST00000421162.2:c.535A>T	ENSP00000392245.2:p.Ile179Phe
ENST00000613192.2:c.159-14574A>T	ENSP00000483275.2:n.159-14574A>T
ENST00000613374.5:c.478A>T	ENSP00000484464.1:p.Ile160Phe
ENST00000613706.5:c.1480A>T	ENSP00000484976.2:p.Ile494Phe
ENST00000617164.5:c.1831A>T	ENSP00000480470.1:p.Ile611Phe
ENST00000619009.5:c.365-14574A>T	ENSP00000482293.1:n.365-14574A>T
ENST00000650978.1:c.3263A>T
ENST00000260947.8:c.1888A>T	ENSP00000260947.4:p.Ile630Phe
ENST00000421162.1:c.535A>T	ENSP00000392245.1:p.Ile179Phe
ENST00000455743.5:c.*1508A>T	ENSP00000412186.1:n.*1508A>T
ENST00000613192.1:c.74-14574A>T	ENSP00000483275.1:n.74-14574A>T
ENST00000613374.4:c.478A>T	ENSP00000484464.1:p.Ile160Phe
ENST00000613706.4:c.535A>T	ENSP00000484976.1:p.Ile179Phe
ENST00000617164.4:c.1831A>T	ENSP00000480470.1:p.Ile611Phe
ENST00000619009.4:c.365-14574A>T	ENSP00000482293.1:n.365-14574A>T
ENST00000620057.4:c.*554A>T	ENSP00000481988.1:n.*554A>T
NM_000465.3:c.1888A>T	NP_000456.2:p.Ile630Phe
NM_001282543.1:c.1831A>T	NP_001269472.1:p.Ile611Phe
NM_001282545.1:c.535A>T	NP_001269474.1:p.Ile179Phe
NM_001282548.1:c.478A>T	NP_001269477.1:p.Ile160Phe
NM_001282549.1:c.365-14574A>T	NP_001269478.1:n.365-14574A>T
NR_104212.1:n.1881A>T
NR_104215.1:n.1824A>T
NR_104216.1:n.1080A>T
XM_011511567.1:c.1834A>T	XP_011509869.1:p.Ile612Phe
XM_011511568.1:c.1888A>T	XP_011509870.1:p.Ile630Phe
XM_017004613.1:c.1987A>T	XP_016860102.1:p.Ile663Phe
XM_017004614.1:c.1987A>T	XP_016860103.1:p.Ile663Phe
XR_002959322.1:n.2078A>T
NM_000465.4:c.1888A>T MANE Select	NP_000456.2:p.Ile630Phe
NM_001282543.2:c.1831A>T	NP_001269472.1:p.Ile611Phe
NM_001282545.2:c.535A>T	NP_001269474.1:p.Ile179Phe
NM_001282548.2:c.478A>T	NP_001269477.1:p.Ile160Phe
NM_001282549.2:c.365-14574A>T	NP_001269478.1:n.365-14574A>T
NR_104212.2:n.1853A>T
NR_104215.2:n.1796A>T
NR_104216.2:n.1052A>T