Canonical Allele Identifier: CA350450023

Gene: BARD1

Linked Data

• dbSNP Id: rs1348871714
• MyVariant Identifiers: chr2:g.215593494G>A (hg19) ; chr2:g.214728770G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728770G>A , CM000664.2:g.214728770G>A	GRCh38
NC_000002.11:g.215593494G>A , CM000664.1:g.215593494G>A	GRCh37
NC_000002.10:g.215301739G>A	NCBI36
NG_012047.2:g.85935C>T
NG_012047.3:g.85942C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2240C>T MANE Select	ENSP00000260947.4:p.Pro747Leu
ENST00000421162.2:c.887C>T	ENSP00000392245.2:p.Pro296Leu
ENST00000613192.2:c.*303C>T	ENSP00000483275.2:n.*303C>T
ENST00000613374.5:c.830C>T	ENSP00000484464.1:p.Pro277Leu
ENST00000613706.5:c.1832C>T	ENSP00000484976.2:p.Pro611Leu
ENST00000617164.5:c.2183C>T	ENSP00000480470.1:p.Pro728Leu
ENST00000619009.5:c.701C>T	ENSP00000482293.1:p.Pro234Leu
ENST00000650978.1:c.3615C>T
ENST00000260947.8:c.2240C>T	ENSP00000260947.4:p.Pro747Leu
ENST00000432456.5:c.383C>T
ENST00000455743.5:c.*1860C>T	ENSP00000412186.1:n.*1860C>T
ENST00000471590.5:n.575C>T
ENST00000613192.1:c.410C>T	ENSP00000483275.1:p.Pro137Leu
ENST00000613374.4:c.830C>T	ENSP00000484464.1:p.Pro277Leu
ENST00000613706.4:c.887C>T	ENSP00000484976.1:p.Pro296Leu
ENST00000617164.4:c.2183C>T	ENSP00000480470.1:p.Pro728Leu
ENST00000619009.4:c.701C>T	ENSP00000482293.1:p.Pro234Leu
ENST00000620057.4:c.*906C>T	ENSP00000481988.1:n.*906C>T
NM_000465.3:c.2240C>T	NP_000456.2:p.Pro747Leu
NM_001282543.1:c.2183C>T	NP_001269472.1:p.Pro728Leu
NM_001282545.1:c.887C>T	NP_001269474.1:p.Pro296Leu
NM_001282548.1:c.830C>T	NP_001269477.1:p.Pro277Leu
NM_001282549.1:c.701C>T	NP_001269478.1:p.Pro234Leu
NR_104212.1:n.2233C>T
NR_104215.1:n.2176C>T
NR_104216.1:n.1432C>T
XM_011511567.1:c.2186C>T	XP_011509869.1:p.Pro729Leu
XM_017004613.1:c.2339C>T	XP_016860102.1:p.Pro780Leu
XR_002959322.1:n.2606C>T
NM_000465.4:c.2240C>T MANE Select	NP_000456.2:p.Pro747Leu
NM_001282543.2:c.2183C>T	NP_001269472.1:p.Pro728Leu
NM_001282545.2:c.887C>T	NP_001269474.1:p.Pro296Leu
NM_001282548.2:c.830C>T	NP_001269477.1:p.Pro277Leu
NM_001282549.2:c.701C>T	NP_001269478.1:p.Pro234Leu
NR_104212.2:n.2205C>T
NR_104215.2:n.2148C>T
NR_104216.2:n.1404C>T