Canonical Allele Identifier: CA350454682

Gene: BARD1

Linked Data

• ClinVar Variation Id: 573540
• ClinVar RCV Id: RCV000695237 ; RCV003362901
• dbSNP Id: rs1064796411
• MyVariant Identifiers: chr2:g.215617204C>A (hg19) ; chr2:g.214752480C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752480C>A , CM000664.2:g.214752480C>A	GRCh38
NC_000002.11:g.215617204C>A , CM000664.1:g.215617204C>A	GRCh37
NC_000002.10:g.215325449C>A	NCBI36
NG_012047.2:g.62225G>T
NG_012047.3:g.62232G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1644G>T MANE Select	ENSP00000260947.4:p.Lys548Asn
ENST00000421162.2:c.291G>T	ENSP00000392245.2:p.Lys97Asn
ENST00000613192.2:c.159-21972G>T	ENSP00000483275.2:n.159-21972G>T
ENST00000613374.5:c.234G>T	ENSP00000484464.1:p.Lys78Asn
ENST00000613706.5:c.1236G>T	ENSP00000484976.2:p.Lys412Asn
ENST00000617164.5:c.1587G>T	ENSP00000480470.1:p.Lys529Asn
ENST00000619009.5:c.365-21972G>T	ENSP00000482293.1:n.365-21972G>T
ENST00000650978.1:c.3019G>T
ENST00000260947.8:c.1644G>T	ENSP00000260947.4:p.Lys548Asn
ENST00000421162.1:c.291G>T	ENSP00000392245.1:p.Lys97Asn
ENST00000455743.5:c.*1264G>T	ENSP00000412186.1:n.*1264G>T
ENST00000613192.1:c.74-21972G>T	ENSP00000483275.1:n.74-21972G>T
ENST00000613374.4:c.234G>T	ENSP00000484464.1:p.Lys78Asn
ENST00000613706.4:c.291G>T	ENSP00000484976.1:p.Lys97Asn
ENST00000617164.4:c.1587G>T	ENSP00000480470.1:p.Lys529Asn
ENST00000619009.4:c.365-21972G>T	ENSP00000482293.1:n.365-21972G>T
ENST00000620057.4:c.*310G>T	ENSP00000481988.1:n.*310G>T
NM_000465.3:c.1644G>T	NP_000456.2:p.Lys548Asn
NM_001282543.1:c.1587G>T	NP_001269472.1:p.Lys529Asn
NM_001282545.1:c.291G>T	NP_001269474.1:p.Lys97Asn
NM_001282548.1:c.234G>T	NP_001269477.1:p.Lys78Asn
NM_001282549.1:c.365-21972G>T	NP_001269478.1:n.365-21972G>T
NR_104212.1:n.1637G>T
NR_104215.1:n.1580G>T
NR_104216.1:n.836G>T
XM_011511567.1:c.1590G>T	XP_011509869.1:p.Lys530Asn
XM_011511568.1:c.1644G>T	XP_011509870.1:p.Lys548Asn
XM_017004613.1:c.1743G>T	XP_016860102.1:p.Lys581Asn
XM_017004614.1:c.1743G>T	XP_016860103.1:p.Lys581Asn
XR_002959322.1:n.1834G>T
NM_000465.4:c.1644G>T MANE Select	NP_000456.2:p.Lys548Asn
NM_001282543.2:c.1587G>T	NP_001269472.1:p.Lys529Asn
NM_001282545.2:c.291G>T	NP_001269474.1:p.Lys97Asn
NM_001282548.2:c.234G>T	NP_001269477.1:p.Lys78Asn
NM_001282549.2:c.365-21972G>T	NP_001269478.1:n.365-21972G>T
NR_104212.2:n.1609G>T
NR_104215.2:n.1552G>T
NR_104216.2:n.808G>T