Canonical Allele Identifier: CA350451142

Gene: BARD1

Linked Data

• COSMIC: COSM6439060 ; COSM6439061
• MyVariant Identifiers: chr2:g.215595167G>A (hg19) ; chr2:g.214730443G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730443G>A , CM000664.2:g.214730443G>A	GRCh38
NC_000002.11:g.215595167G>A , CM000664.1:g.215595167G>A	GRCh37
NC_000002.10:g.215303412G>A	NCBI36
NG_012047.2:g.84262C>T
NG_012047.3:g.84269C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1969C>T MANE Select	ENSP00000260947.4:p.Pro657Ser
ENST00000421162.2:c.616C>T	ENSP00000392245.2:p.Pro206Ser
ENST00000613192.2:c.*32C>T	ENSP00000483275.2:n.*32C>T
ENST00000613374.5:c.559C>T	ENSP00000484464.1:p.Pro187Ser
ENST00000613706.5:c.1561C>T	ENSP00000484976.2:p.Pro521Ser
ENST00000617164.5:c.1912C>T	ENSP00000480470.1:p.Pro638Ser
ENST00000619009.5:c.430C>T	ENSP00000482293.1:p.Pro144Ser
ENST00000650978.1:c.3344C>T
ENST00000260947.8:c.1969C>T	ENSP00000260947.4:p.Pro657Ser
ENST00000421162.1:c.616C>T	ENSP00000392245.1:p.Pro206Ser
ENST00000432456.5:c.66C>T
ENST00000455743.5:c.*1589C>T	ENSP00000412186.1:n.*1589C>T
ENST00000471590.5:n.304C>T
ENST00000613192.1:c.139C>T	ENSP00000483275.1:p.Pro47Ser
ENST00000613374.4:c.559C>T	ENSP00000484464.1:p.Pro187Ser
ENST00000613706.4:c.616C>T	ENSP00000484976.1:p.Pro206Ser
ENST00000617164.4:c.1912C>T	ENSP00000480470.1:p.Pro638Ser
ENST00000619009.4:c.430C>T	ENSP00000482293.1:p.Pro144Ser
ENST00000620057.4:c.*635C>T	ENSP00000481988.1:n.*635C>T
NM_000465.3:c.1969C>T	NP_000456.2:p.Pro657Ser
NM_001282543.1:c.1912C>T	NP_001269472.1:p.Pro638Ser
NM_001282545.1:c.616C>T	NP_001269474.1:p.Pro206Ser
NM_001282548.1:c.559C>T	NP_001269477.1:p.Pro187Ser
NM_001282549.1:c.430C>T	NP_001269478.1:p.Pro144Ser
NR_104212.1:n.1962C>T
NR_104215.1:n.1905C>T
NR_104216.1:n.1161C>T
XM_011511567.1:c.1915C>T	XP_011509869.1:p.Pro639Ser
XM_017004613.1:c.2068C>T	XP_016860102.1:p.Pro690Ser
XR_002959322.1:n.2159C>T
NM_000465.4:c.1969C>T MANE Select	NP_000456.2:p.Pro657Ser
NM_001282543.2:c.1912C>T	NP_001269472.1:p.Pro638Ser
NM_001282545.2:c.616C>T	NP_001269474.1:p.Pro206Ser
NM_001282548.2:c.559C>T	NP_001269477.1:p.Pro187Ser
NM_001282549.2:c.430C>T	NP_001269478.1:p.Pro144Ser
NR_104212.2:n.1934C>T
NR_104215.2:n.1877C>T
NR_104216.2:n.1133C>T