Canonical Allele Identifier: CA350452216

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215609845T>C (hg19) ; chr2:g.214745121T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745121T>C , CM000664.2:g.214745121T>C	GRCh38
NC_000002.11:g.215609845T>C , CM000664.1:g.215609845T>C	GRCh37
NC_000002.10:g.215318090T>C	NCBI36
NG_012047.2:g.69584A>G
NG_012047.3:g.69591A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1849A>G MANE Select	ENSP00000260947.4:p.Thr617Ala
ENST00000421162.2:c.496A>G	ENSP00000392245.2:p.Thr166Ala
ENST00000613192.2:c.159-14613A>G	ENSP00000483275.2:n.159-14613A>G
ENST00000613374.5:c.439A>G	ENSP00000484464.1:p.Thr147Ala
ENST00000613706.5:c.1441A>G	ENSP00000484976.2:p.Thr481Ala
ENST00000617164.5:c.1792A>G	ENSP00000480470.1:p.Thr598Ala
ENST00000619009.5:c.365-14613A>G	ENSP00000482293.1:n.365-14613A>G
ENST00000650978.1:c.3224A>G
ENST00000260947.8:c.1849A>G	ENSP00000260947.4:p.Thr617Ala
ENST00000421162.1:c.496A>G	ENSP00000392245.1:p.Thr166Ala
ENST00000455743.5:c.*1469A>G	ENSP00000412186.1:n.*1469A>G
ENST00000613192.1:c.74-14613A>G	ENSP00000483275.1:n.74-14613A>G
ENST00000613374.4:c.439A>G	ENSP00000484464.1:p.Thr147Ala
ENST00000613706.4:c.496A>G	ENSP00000484976.1:p.Thr166Ala
ENST00000617164.4:c.1792A>G	ENSP00000480470.1:p.Thr598Ala
ENST00000619009.4:c.365-14613A>G	ENSP00000482293.1:n.365-14613A>G
ENST00000620057.4:c.*515A>G	ENSP00000481988.1:n.*515A>G
NM_000465.3:c.1849A>G	NP_000456.2:p.Thr617Ala
NM_001282543.1:c.1792A>G	NP_001269472.1:p.Thr598Ala
NM_001282545.1:c.496A>G	NP_001269474.1:p.Thr166Ala
NM_001282548.1:c.439A>G	NP_001269477.1:p.Thr147Ala
NM_001282549.1:c.365-14613A>G	NP_001269478.1:n.365-14613A>G
NR_104212.1:n.1842A>G
NR_104215.1:n.1785A>G
NR_104216.1:n.1041A>G
XM_011511567.1:c.1795A>G	XP_011509869.1:p.Thr599Ala
XM_011511568.1:c.1849A>G	XP_011509870.1:p.Thr617Ala
XM_017004613.1:c.1948A>G	XP_016860102.1:p.Thr650Ala
XM_017004614.1:c.1948A>G	XP_016860103.1:p.Thr650Ala
XR_002959322.1:n.2039A>G
NM_000465.4:c.1849A>G MANE Select	NP_000456.2:p.Thr617Ala
NM_001282543.2:c.1792A>G	NP_001269472.1:p.Thr598Ala
NM_001282545.2:c.496A>G	NP_001269474.1:p.Thr166Ala
NM_001282548.2:c.439A>G	NP_001269477.1:p.Thr147Ala
NM_001282549.2:c.365-14613A>G	NP_001269478.1:n.365-14613A>G
NR_104212.2:n.1814A>G
NR_104215.2:n.1757A>G
NR_104216.2:n.1013A>G