Canonical Allele Identifier: CA350452688

Gene: BARD1

Linked Data

• gnomAD v4: 2-214745752-C-G
• MyVariant Identifiers: chr2:g.215610476C>G (hg19) ; chr2:g.214745752C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745752C>G , CM000664.2:g.214745752C>G	GRCh38
NC_000002.11:g.215610476C>G , CM000664.1:g.215610476C>G	GRCh37
NC_000002.10:g.215318721C>G	NCBI36
NG_012047.2:g.68953G>C
NG_012047.3:g.68960G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1780G>C MANE Select	ENSP00000260947.4:p.Ala594Pro
ENST00000421162.2:c.427G>C	ENSP00000392245.2:p.Ala143Pro
ENST00000613192.2:c.159-15244G>C	ENSP00000483275.2:n.159-15244G>C
ENST00000613374.5:c.370G>C	ENSP00000484464.1:p.Ala124Pro
ENST00000613706.5:c.1372G>C	ENSP00000484976.2:p.Ala458Pro
ENST00000617164.5:c.1723G>C	ENSP00000480470.1:p.Ala575Pro
ENST00000619009.5:c.365-15244G>C	ENSP00000482293.1:n.365-15244G>C
ENST00000650978.1:c.3155G>C
ENST00000260947.8:c.1780G>C	ENSP00000260947.4:p.Ala594Pro
ENST00000421162.1:c.427G>C	ENSP00000392245.1:p.Ala143Pro
ENST00000455743.5:c.*1400G>C	ENSP00000412186.1:n.*1400G>C
ENST00000465841.1:n.135G>C
ENST00000613192.1:c.74-15244G>C	ENSP00000483275.1:n.74-15244G>C
ENST00000613374.4:c.370G>C	ENSP00000484464.1:p.Ala124Pro
ENST00000613706.4:c.427G>C	ENSP00000484976.1:p.Ala143Pro
ENST00000617164.4:c.1723G>C	ENSP00000480470.1:p.Ala575Pro
ENST00000619009.4:c.365-15244G>C	ENSP00000482293.1:n.365-15244G>C
ENST00000620057.4:c.*446G>C	ENSP00000481988.1:n.*446G>C
NM_000465.3:c.1780G>C	NP_000456.2:p.Ala594Pro
NM_001282543.1:c.1723G>C	NP_001269472.1:p.Ala575Pro
NM_001282545.1:c.427G>C	NP_001269474.1:p.Ala143Pro
NM_001282548.1:c.370G>C	NP_001269477.1:p.Ala124Pro
NM_001282549.1:c.365-15244G>C	NP_001269478.1:n.365-15244G>C
NR_104212.1:n.1773G>C
NR_104215.1:n.1716G>C
NR_104216.1:n.972G>C
XM_011511567.1:c.1726G>C	XP_011509869.1:p.Ala576Pro
XM_011511568.1:c.1780G>C	XP_011509870.1:p.Ala594Pro
XM_017004613.1:c.1879G>C	XP_016860102.1:p.Ala627Pro
XM_017004614.1:c.1879G>C	XP_016860103.1:p.Ala627Pro
XR_002959322.1:n.1970G>C
NM_000465.4:c.1780G>C MANE Select	NP_000456.2:p.Ala594Pro
NM_001282543.2:c.1723G>C	NP_001269472.1:p.Ala575Pro
NM_001282545.2:c.427G>C	NP_001269474.1:p.Ala143Pro
NM_001282548.2:c.370G>C	NP_001269477.1:p.Ala124Pro
NM_001282549.2:c.365-15244G>C	NP_001269478.1:n.365-15244G>C
NR_104212.2:n.1745G>C
NR_104215.2:n.1688G>C
NR_104216.2:n.944G>C