Canonical Allele Identifier: CA350454832

Gene: BARD1

Linked Data

• MyVariant Identifiers: chr2:g.215617231C>A (hg19) ; chr2:g.214752507C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752507C>A , CM000664.2:g.214752507C>A	GRCh38
NC_000002.11:g.215617231C>A , CM000664.1:g.215617231C>A	GRCh37
NC_000002.10:g.215325476C>A	NCBI36
NG_012047.2:g.62198G>T
NG_012047.3:g.62205G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1617G>T MANE Select	ENSP00000260947.4:p.Met539Ile
ENST00000421162.2:c.264G>T	ENSP00000392245.2:p.Met88Ile
ENST00000613192.2:c.159-21999G>T	ENSP00000483275.2:n.159-21999G>T
ENST00000613374.5:c.207G>T	ENSP00000484464.1:p.Met69Ile
ENST00000613706.5:c.1209G>T	ENSP00000484976.2:p.Met403Ile
ENST00000617164.5:c.1560G>T	ENSP00000480470.1:p.Met520Ile
ENST00000619009.5:c.365-21999G>T	ENSP00000482293.1:n.365-21999G>T
ENST00000650978.1:c.2992G>T
ENST00000260947.8:c.1617G>T	ENSP00000260947.4:p.Met539Ile
ENST00000421162.1:c.264G>T	ENSP00000392245.1:p.Met88Ile
ENST00000455743.5:c.*1237G>T	ENSP00000412186.1:n.*1237G>T
ENST00000613192.1:c.74-21999G>T	ENSP00000483275.1:n.74-21999G>T
ENST00000613374.4:c.207G>T	ENSP00000484464.1:p.Met69Ile
ENST00000613706.4:c.264G>T	ENSP00000484976.1:p.Met88Ile
ENST00000617164.4:c.1560G>T	ENSP00000480470.1:p.Met520Ile
ENST00000619009.4:c.365-21999G>T	ENSP00000482293.1:n.365-21999G>T
ENST00000620057.4:c.*283G>T	ENSP00000481988.1:n.*283G>T
NM_000465.3:c.1617G>T	NP_000456.2:p.Met539Ile
NM_001282543.1:c.1560G>T	NP_001269472.1:p.Met520Ile
NM_001282545.1:c.264G>T	NP_001269474.1:p.Met88Ile
NM_001282548.1:c.207G>T	NP_001269477.1:p.Met69Ile
NM_001282549.1:c.365-21999G>T	NP_001269478.1:n.365-21999G>T
NR_104212.1:n.1610G>T
NR_104215.1:n.1553G>T
NR_104216.1:n.809G>T
XM_011511567.1:c.1563G>T	XP_011509869.1:p.Met521Ile
XM_011511568.1:c.1617G>T	XP_011509870.1:p.Met539Ile
XM_017004613.1:c.1716G>T	XP_016860102.1:p.Met572Ile
XM_017004614.1:c.1716G>T	XP_016860103.1:p.Met572Ile
XR_002959322.1:n.1807G>T
NM_000465.4:c.1617G>T MANE Select	NP_000456.2:p.Met539Ile
NM_001282543.2:c.1560G>T	NP_001269472.1:p.Met520Ile
NM_001282545.2:c.264G>T	NP_001269474.1:p.Met88Ile
NM_001282548.2:c.207G>T	NP_001269477.1:p.Met69Ile
NM_001282549.2:c.365-21999G>T	NP_001269478.1:n.365-21999G>T
NR_104212.2:n.1582G>T
NR_104215.2:n.1525G>T
NR_104216.2:n.781G>T