Canonical Allele Identifier: CA350454757

Gene: BARD1

Linked Data

• gnomAD v4: 2-214752493-A-G
• MyVariant Identifiers: chr2:g.215617217A>G (hg19) ; chr2:g.214752493A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752493A>G , CM000664.2:g.214752493A>G	GRCh38
NC_000002.11:g.215617217A>G , CM000664.1:g.215617217A>G	GRCh37
NC_000002.10:g.215325462A>G	NCBI36
NG_012047.2:g.62212T>C
NG_012047.3:g.62219T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1631T>C MANE Select	ENSP00000260947.4:p.Leu544Pro
ENST00000421162.2:c.278T>C	ENSP00000392245.2:p.Leu93Pro
ENST00000613192.2:c.159-21985T>C	ENSP00000483275.2:n.159-21985T>C
ENST00000613374.5:c.221T>C	ENSP00000484464.1:p.Leu74Pro
ENST00000613706.5:c.1223T>C	ENSP00000484976.2:p.Leu408Pro
ENST00000617164.5:c.1574T>C	ENSP00000480470.1:p.Leu525Pro
ENST00000619009.5:c.365-21985T>C	ENSP00000482293.1:n.365-21985T>C
ENST00000650978.1:c.3006T>C
ENST00000260947.8:c.1631T>C	ENSP00000260947.4:p.Leu544Pro
ENST00000421162.1:c.278T>C	ENSP00000392245.1:p.Leu93Pro
ENST00000455743.5:c.*1251T>C	ENSP00000412186.1:n.*1251T>C
ENST00000613192.1:c.74-21985T>C	ENSP00000483275.1:n.74-21985T>C
ENST00000613374.4:c.221T>C	ENSP00000484464.1:p.Leu74Pro
ENST00000613706.4:c.278T>C	ENSP00000484976.1:p.Leu93Pro
ENST00000617164.4:c.1574T>C	ENSP00000480470.1:p.Leu525Pro
ENST00000619009.4:c.365-21985T>C	ENSP00000482293.1:n.365-21985T>C
ENST00000620057.4:c.*297T>C	ENSP00000481988.1:n.*297T>C
NM_000465.3:c.1631T>C	NP_000456.2:p.Leu544Pro
NM_001282543.1:c.1574T>C	NP_001269472.1:p.Leu525Pro
NM_001282545.1:c.278T>C	NP_001269474.1:p.Leu93Pro
NM_001282548.1:c.221T>C	NP_001269477.1:p.Leu74Pro
NM_001282549.1:c.365-21985T>C	NP_001269478.1:n.365-21985T>C
NR_104212.1:n.1624T>C
NR_104215.1:n.1567T>C
NR_104216.1:n.823T>C
XM_011511567.1:c.1577T>C	XP_011509869.1:p.Leu526Pro
XM_011511568.1:c.1631T>C	XP_011509870.1:p.Leu544Pro
XM_017004613.1:c.1730T>C	XP_016860102.1:p.Leu577Pro
XM_017004614.1:c.1730T>C	XP_016860103.1:p.Leu577Pro
XR_002959322.1:n.1821T>C
NM_000465.4:c.1631T>C MANE Select	NP_000456.2:p.Leu544Pro
NM_001282543.2:c.1574T>C	NP_001269472.1:p.Leu525Pro
NM_001282545.2:c.278T>C	NP_001269474.1:p.Leu93Pro
NM_001282548.2:c.221T>C	NP_001269477.1:p.Leu74Pro
NM_001282549.2:c.365-21985T>C	NP_001269478.1:n.365-21985T>C
NR_104212.2:n.1596T>C
NR_104215.2:n.1539T>C
NR_104216.2:n.795T>C