Canonical Allele Identifier: CA376071976

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828411C>T (hg19) ; chr10:g.18539482C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539482C>T , CM000672.2:g.18539482C>T	GRCh38
NC_000010.10:g.18828411C>T , CM000672.1:g.18828411C>T	GRCh37
NC_000010.9:g.18868417C>T	NCBI36
NG_016195.1:g.403806C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1597C>T (CACNB2)	ENSP00000366532.4:p.His533Tyr
ENST00000377319.9:c.1462C>T (CACNB2)	ENSP00000366536.3:p.His488Tyr
ENST00000645287.2:c.1585C>T (CACNB2)	ENSP00000496203.1:p.His529Tyr
ENST00000282343.13:c.1657C>T (CACNB2)	ENSP00000282343.8:p.His553Tyr
ENST00000324631.13:c.1741C>T (CACNB2) MANE Select	ENSP00000320025.8:p.His581Tyr
ENST00000377315.5:c.1597C>T (CACNB2)	ENSP00000366532.4:p.His533Tyr
ENST00000377319.8:c.1462C>T (CACNB2)	ENSP00000366536.3:p.His488Tyr
ENST00000377329.10:c.1579C>T (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His527Tyr
ENST00000377331.8:c.1366C>T (CACNB2)	ENSP00000366548.4:p.His456Tyr
ENST00000643096.2:c.1543C>T (CACNB2)	ENSP00000494209.2:p.His515Tyr
ENST00000645287.1:c.1585C>T (CACNB2)	ENSP00000496203.1:p.His529Tyr
ENST00000647168.2:c.*882C>T (CACNB2)	ENSP00000495854.2:n.*882C>T
ENST00000650685.1:c.1483C>T (CACNB2)	ENSP00000498460.1:p.His495Tyr
ENST00000651330.1:c.*1015C>T (CACNB2)	ENSP00000498457.1:n.*1015C>T
ENST00000651468.1:c.1298C>T (CACNB2)	ENSP00000498352.1:n.1298C>T
ENST00000651928.1:c.*980C>T (CACNB2)	ENSP00000499177.1:n.*980C>T
ENST00000652391.1:c.1561C>T (CACNB2)	ENSP00000498938.1:p.His521Tyr
ENST00000652478.1:c.*841C>T (CACNB2)	ENSP00000498812.1:n.*841C>T
ENST00000282343.12:c.1657C>T (CACNB2)	ENSP00000282343.8:p.His553Tyr
ENST00000324631.11:c.1741C>T (CACNB2)	ENSP00000320025.7:p.His581Tyr
ENST00000352115.10:c.1669C>T (CACNB2)	ENSP00000344474.6:p.His557Tyr
ENST00000377315.4:c.1597C>T (CACNB2)	ENSP00000366532.4:p.His533Tyr
ENST00000377319.7:c.1462C>T (CACNB2)	ENSP00000366536.3:p.His488Tyr
ENST00000377328.5:c.991C>T (CACNB2)	ENSP00000366545.1:p.His331Tyr
ENST00000377329.8:c.1579C>T (CACNB2)	ENSP00000366546.4:p.His527Tyr
ENST00000377331.6:c.1585C>T (CACNB2)	ENSP00000366548.2:p.His529Tyr
ENST00000396576.6:c.1576C>T (CACNB2)	ENSP00000379821.2:p.His526Tyr
ENST00000612134.4:c.1445C>T (CACNB2)	ENSP00000480563.1:n.1445C>T
ENST00000612743.1:c.253C>T (CACNB2)	ENSP00000478676.1:p.His85Tyr
ENST00000615785.4:c.826C>T (CACNB2)	ENSP00000480260.1:p.His276Tyr
ENST00000617363.4:c.1504C>T (CACNB2)	ENSP00000479756.1:p.His502Tyr
NM_000724.3:c.1576C>T (CACNB2)	NP_000715.2:p.His526Tyr
NM_001167945.1:c.1543C>T (CACNB2)	NP_001161417.1:p.His515Tyr
NM_201570.2:c.1597C>T (CACNB2)	NP_963864.1:p.His533Tyr
NM_201571.3:c.1657C>T (CACNB2)	NP_963865.2:p.His553Tyr
NM_201572.3:c.1585C>T (CACNB2)	NP_963866.2:p.His529Tyr
NM_201590.2:c.1579C>T (CACNB2)	NP_963884.2:p.His527Tyr
NM_201593.2:c.1627C>T (CACNB2)	NP_963887.2:p.His543Tyr
NM_201596.2:c.1741C>T (CACNB2)	NP_963890.2:p.His581Tyr
NM_201597.2:c.1669C>T (CACNB2)	NP_963891.1:p.His557Tyr
XM_005252588.2:c.1483C>T (CACNB2)	XP_005252645.1:p.His495Tyr
XM_005252591.2:c.901C>T (CACNB2)	XP_005252648.1:p.His301Tyr
XM_006717502.2:c.1561C>T (CACNB2)	XP_006717565.1:p.His521Tyr
XM_011519659.1:c.1507C>T (CACNB2)	XP_011517961.1:p.His503Tyr
XM_011519660.1:c.1462C>T (CACNB2)	XP_011517962.1:p.His488Tyr
NM_001330060.1:c.1462C>T (CACNB2)	NP_001316989.1:p.His488Tyr
XM_005252588.4:c.1483C>T (CACNB2)	XP_005252645.1:p.His495Tyr
XM_005252591.3:c.901C>T (CACNB2)	XP_005252648.1:p.His301Tyr
XM_006717502.3:c.1561C>T (CACNB2)	XP_006717565.1:p.His521Tyr
XM_011519659.2:c.1507C>T (CACNB2)	XP_011517961.1:p.His503Tyr
XM_017016625.1:c.901C>T (CACNB2)	XP_016872114.1:p.His301Tyr
XR_001747060.1:n.2423+2587G>A (NSUN6)
XR_001747198.1:n.1866C>T (CACNB2)
NM_000724.4:c.1576C>T (CACNB2)	NP_000715.2:p.His526Tyr
NM_001167945.2:c.1543C>T (CACNB2)	NP_001161417.1:p.His515Tyr
NM_001330060.2:c.1462C>T (CACNB2)	NP_001316989.1:p.His488Tyr
NM_201570.3:c.1597C>T (CACNB2)	NP_963864.1:p.His533Tyr
NM_201571.4:c.1657C>T (CACNB2)	NP_963865.2:p.His553Tyr
NM_201572.4:c.1585C>T (CACNB2)	NP_963866.2:p.His529Tyr
NM_201590.3:c.1579C>T (CACNB2) MANE Plus Clinical	NP_963884.2:p.His527Tyr
NM_201593.3:c.1627C>T (CACNB2)	NP_963887.2:p.His543Tyr
NM_201596.3:c.1741C>T (CACNB2) MANE Select	NP_963890.2:p.His581Tyr
NM_201597.3:c.1669C>T (CACNB2)	NP_963891.1:p.His557Tyr