Canonical Allele Identifier: CA376071981

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828412A>T (hg19) ; chr10:g.18539483A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539483A>T , CM000672.2:g.18539483A>T	GRCh38
NC_000010.10:g.18828412A>T , CM000672.1:g.18828412A>T	GRCh37
NC_000010.9:g.18868418A>T	NCBI36
NG_016195.1:g.403807A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1598A>T (CACNB2)	ENSP00000366532.4:p.His533Leu
ENST00000377319.9:c.1463A>T (CACNB2)	ENSP00000366536.3:p.His488Leu
ENST00000645287.2:c.1586A>T (CACNB2)	ENSP00000496203.1:p.His529Leu
ENST00000282343.13:c.1658A>T (CACNB2)	ENSP00000282343.8:p.His553Leu
ENST00000324631.13:c.1742A>T (CACNB2) MANE Select	ENSP00000320025.8:p.His581Leu
ENST00000377315.5:c.1598A>T (CACNB2)	ENSP00000366532.4:p.His533Leu
ENST00000377319.8:c.1463A>T (CACNB2)	ENSP00000366536.3:p.His488Leu
ENST00000377329.10:c.1580A>T (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His527Leu
ENST00000377331.8:c.1367A>T (CACNB2)	ENSP00000366548.4:p.His456Leu
ENST00000643096.2:c.1544A>T (CACNB2)	ENSP00000494209.2:p.His515Leu
ENST00000645287.1:c.1586A>T (CACNB2)	ENSP00000496203.1:p.His529Leu
ENST00000647168.2:c.*883A>T (CACNB2)	ENSP00000495854.2:n.*883A>T
ENST00000650685.1:c.1484A>T (CACNB2)	ENSP00000498460.1:p.His495Leu
ENST00000651330.1:c.*1016A>T (CACNB2)	ENSP00000498457.1:n.*1016A>T
ENST00000651468.1:c.1299A>T (CACNB2)	ENSP00000498352.1:n.1299A>T
ENST00000651928.1:c.*981A>T (CACNB2)	ENSP00000499177.1:n.*981A>T
ENST00000652391.1:c.1562A>T (CACNB2)	ENSP00000498938.1:p.His521Leu
ENST00000652478.1:c.*842A>T (CACNB2)	ENSP00000498812.1:n.*842A>T
ENST00000282343.12:c.1658A>T (CACNB2)	ENSP00000282343.8:p.His553Leu
ENST00000324631.11:c.1742A>T (CACNB2)	ENSP00000320025.7:p.His581Leu
ENST00000352115.10:c.1670A>T (CACNB2)	ENSP00000344474.6:p.His557Leu
ENST00000377315.4:c.1598A>T (CACNB2)	ENSP00000366532.4:p.His533Leu
ENST00000377319.7:c.1463A>T (CACNB2)	ENSP00000366536.3:p.His488Leu
ENST00000377328.5:c.992A>T (CACNB2)	ENSP00000366545.1:p.His331Leu
ENST00000377329.8:c.1580A>T (CACNB2)	ENSP00000366546.4:p.His527Leu
ENST00000377331.6:c.1586A>T (CACNB2)	ENSP00000366548.2:p.His529Leu
ENST00000396576.6:c.1577A>T (CACNB2)	ENSP00000379821.2:p.His526Leu
ENST00000612134.4:c.1446A>T (CACNB2)	ENSP00000480563.1:n.1446A>T
ENST00000612743.1:c.254A>T (CACNB2)	ENSP00000478676.1:p.His85Leu
ENST00000615785.4:c.827A>T (CACNB2)	ENSP00000480260.1:p.His276Leu
ENST00000617363.4:c.1505A>T (CACNB2)	ENSP00000479756.1:p.His502Leu
NM_000724.3:c.1577A>T (CACNB2)	NP_000715.2:p.His526Leu
NM_001167945.1:c.1544A>T (CACNB2)	NP_001161417.1:p.His515Leu
NM_201570.2:c.1598A>T (CACNB2)	NP_963864.1:p.His533Leu
NM_201571.3:c.1658A>T (CACNB2)	NP_963865.2:p.His553Leu
NM_201572.3:c.1586A>T (CACNB2)	NP_963866.2:p.His529Leu
NM_201590.2:c.1580A>T (CACNB2)	NP_963884.2:p.His527Leu
NM_201593.2:c.1628A>T (CACNB2)	NP_963887.2:p.His543Leu
NM_201596.2:c.1742A>T (CACNB2)	NP_963890.2:p.His581Leu
NM_201597.2:c.1670A>T (CACNB2)	NP_963891.1:p.His557Leu
XM_005252588.2:c.1484A>T (CACNB2)	XP_005252645.1:p.His495Leu
XM_005252591.2:c.902A>T (CACNB2)	XP_005252648.1:p.His301Leu
XM_006717502.2:c.1562A>T (CACNB2)	XP_006717565.1:p.His521Leu
XM_011519659.1:c.1508A>T (CACNB2)	XP_011517961.1:p.His503Leu
XM_011519660.1:c.1463A>T (CACNB2)	XP_011517962.1:p.His488Leu
NM_001330060.1:c.1463A>T (CACNB2)	NP_001316989.1:p.His488Leu
XM_005252588.4:c.1484A>T (CACNB2)	XP_005252645.1:p.His495Leu
XM_005252591.3:c.902A>T (CACNB2)	XP_005252648.1:p.His301Leu
XM_006717502.3:c.1562A>T (CACNB2)	XP_006717565.1:p.His521Leu
XM_011519659.2:c.1508A>T (CACNB2)	XP_011517961.1:p.His503Leu
XM_017016625.1:c.902A>T (CACNB2)	XP_016872114.1:p.His301Leu
XR_001747060.1:n.2423+2586T>A (NSUN6)
XR_001747198.1:n.1867A>T (CACNB2)
NM_000724.4:c.1577A>T (CACNB2)	NP_000715.2:p.His526Leu
NM_001167945.2:c.1544A>T (CACNB2)	NP_001161417.1:p.His515Leu
NM_001330060.2:c.1463A>T (CACNB2)	NP_001316989.1:p.His488Leu
NM_201570.3:c.1598A>T (CACNB2)	NP_963864.1:p.His533Leu
NM_201571.4:c.1658A>T (CACNB2)	NP_963865.2:p.His553Leu
NM_201572.4:c.1586A>T (CACNB2)	NP_963866.2:p.His529Leu
NM_201590.3:c.1580A>T (CACNB2) MANE Plus Clinical	NP_963884.2:p.His527Leu
NM_201593.3:c.1628A>T (CACNB2)	NP_963887.2:p.His543Leu
NM_201596.3:c.1742A>T (CACNB2) MANE Select	NP_963890.2:p.His581Leu
NM_201597.3:c.1670A>T (CACNB2)	NP_963891.1:p.His557Leu