Canonical Allele Identifier: CA350449712

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1320514
• ClinVar RCV Id: RCV001776493 ; RCV004040775
• dbSNP Id: rs2105986144
• MyVariant Identifiers: chr2:g.215593419A>T (hg19) ; chr2:g.214728695A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728695A>T , CM000664.2:g.214728695A>T	GRCh38
NC_000002.11:g.215593419A>T , CM000664.1:g.215593419A>T	GRCh37
NC_000002.10:g.215301664A>T	NCBI36
NG_012047.2:g.86010T>A
NG_012047.3:g.86017T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2315T>A MANE Select	ENSP00000260947.4:p.Leu772Ter
ENST00000421162.2:c.962T>A	ENSP00000392245.2:p.Leu321Ter
ENST00000613192.2:c.*378T>A	ENSP00000483275.2:n.*378T>A
ENST00000613374.5:c.905T>A	ENSP00000484464.1:p.Leu302Ter
ENST00000613706.5:c.1907T>A	ENSP00000484976.2:p.Leu636Ter
ENST00000617164.5:c.2258T>A	ENSP00000480470.1:p.Leu753Ter
ENST00000619009.5:c.776T>A	ENSP00000482293.1:p.Leu259Ter
ENST00000650978.1:c.3690T>A
ENST00000260947.8:c.2315T>A	ENSP00000260947.4:p.Leu772Ter
ENST00000432456.5:c.458T>A
ENST00000471590.5:n.650T>A
ENST00000613192.1:c.485T>A	ENSP00000483275.1:p.Leu162Ter
ENST00000613374.4:c.905T>A	ENSP00000484464.1:p.Leu302Ter
ENST00000613706.4:c.962T>A	ENSP00000484976.1:p.Leu321Ter
ENST00000617164.4:c.2258T>A	ENSP00000480470.1:p.Leu753Ter
ENST00000619009.4:c.776T>A	ENSP00000482293.1:p.Leu259Ter
ENST00000620057.4:c.*981T>A	ENSP00000481988.1:n.*981T>A
NM_000465.3:c.2315T>A	NP_000456.2:p.Leu772Ter
NM_001282543.1:c.2258T>A	NP_001269472.1:p.Leu753Ter
NM_001282545.1:c.962T>A	NP_001269474.1:p.Leu321Ter
NM_001282548.1:c.905T>A	NP_001269477.1:p.Leu302Ter
NM_001282549.1:c.776T>A	NP_001269478.1:p.Leu259Ter
NR_104212.1:n.2308T>A
NR_104215.1:n.2251T>A
NR_104216.1:n.1507T>A
XM_011511567.1:c.2261T>A	XP_011509869.1:p.Leu754Ter
XM_017004613.1:c.2414T>A	XP_016860102.1:p.Leu805Ter
XR_002959322.1:n.2681T>A
NM_000465.4:c.2315T>A MANE Select	NP_000456.2:p.Leu772Ter
NM_001282543.2:c.2258T>A	NP_001269472.1:p.Leu753Ter
NM_001282545.2:c.962T>A	NP_001269474.1:p.Leu321Ter
NM_001282548.2:c.905T>A	NP_001269477.1:p.Leu302Ter
NM_001282549.2:c.776T>A	NP_001269478.1:p.Leu259Ter
NR_104212.2:n.2280T>A
NR_104215.2:n.2223T>A
NR_104216.2:n.1479T>A