Canonical Allele Identifier: CA350452215

Gene: BARD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1849A>T MANE Select	ENSP00000260947.4:p.Thr617Ser
ENST00000421162.2:c.496A>T	ENSP00000392245.2:p.Thr166Ser
ENST00000613192.2:c.159-14613A>T	ENSP00000483275.2:n.159-14613A>T
ENST00000613374.5:c.439A>T	ENSP00000484464.1:p.Thr147Ser
ENST00000613706.5:c.1441A>T	ENSP00000484976.2:p.Thr481Ser
ENST00000617164.5:c.1792A>T	ENSP00000480470.1:p.Thr598Ser
ENST00000619009.5:c.365-14613A>T	ENSP00000482293.1:n.365-14613A>T
ENST00000650978.1:c.3224A>T
ENST00000260947.8:c.1849A>T	ENSP00000260947.4:p.Thr617Ser
ENST00000421162.1:c.496A>T	ENSP00000392245.1:p.Thr166Ser
ENST00000455743.5:c.*1469A>T	ENSP00000412186.1:n.*1469A>T
ENST00000613192.1:c.74-14613A>T	ENSP00000483275.1:n.74-14613A>T
ENST00000613374.4:c.439A>T	ENSP00000484464.1:p.Thr147Ser
ENST00000613706.4:c.496A>T	ENSP00000484976.1:p.Thr166Ser
ENST00000617164.4:c.1792A>T	ENSP00000480470.1:p.Thr598Ser
ENST00000619009.4:c.365-14613A>T	ENSP00000482293.1:n.365-14613A>T
ENST00000620057.4:c.*515A>T	ENSP00000481988.1:n.*515A>T
NM_000465.3:c.1849A>T	NP_000456.2:p.Thr617Ser
NM_001282543.1:c.1792A>T	NP_001269472.1:p.Thr598Ser
NM_001282545.1:c.496A>T	NP_001269474.1:p.Thr166Ser
NM_001282548.1:c.439A>T	NP_001269477.1:p.Thr147Ser
NM_001282549.1:c.365-14613A>T	NP_001269478.1:n.365-14613A>T
NR_104212.1:n.1842A>T
NR_104215.1:n.1785A>T
NR_104216.1:n.1041A>T
XM_011511567.1:c.1795A>T	XP_011509869.1:p.Thr599Ser
XM_011511568.1:c.1849A>T	XP_011509870.1:p.Thr617Ser
XM_017004613.1:c.1948A>T	XP_016860102.1:p.Thr650Ser
XM_017004614.1:c.1948A>T	XP_016860103.1:p.Thr650Ser
XR_002959322.1:n.2039A>T
NM_000465.4:c.1849A>T MANE Select	NP_000456.2:p.Thr617Ser
NM_001282543.2:c.1792A>T	NP_001269472.1:p.Thr598Ser
NM_001282545.2:c.496A>T	NP_001269474.1:p.Thr166Ser
NM_001282548.2:c.439A>T	NP_001269477.1:p.Thr147Ser
NM_001282549.2:c.365-14613A>T	NP_001269478.1:n.365-14613A>T
NR_104212.2:n.1814A>T
NR_104215.2:n.1757A>T
NR_104216.2:n.1013A>T