Canonical Allele Identifier: CA376071978

Gene: CACNB2 NSUN6

Linked Data

• gnomAD v4: 10-18539483-A-C
• MyVariant Identifiers: chr10:g.18828412A>C (hg19) ; chr10:g.18539483A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1598A>C (CACNB2)	ENSP00000366532.4:p.His533Pro
ENST00000377319.9:c.1463A>C (CACNB2)	ENSP00000366536.3:p.His488Pro
ENST00000645287.2:c.1586A>C (CACNB2)	ENSP00000496203.1:p.His529Pro
ENST00000282343.13:c.1658A>C (CACNB2)	ENSP00000282343.8:p.His553Pro
ENST00000324631.13:c.1742A>C (CACNB2) MANE Select	ENSP00000320025.8:p.His581Pro
ENST00000377315.5:c.1598A>C (CACNB2)	ENSP00000366532.4:p.His533Pro
ENST00000377319.8:c.1463A>C (CACNB2)	ENSP00000366536.3:p.His488Pro
ENST00000377329.10:c.1580A>C (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His527Pro
ENST00000377331.8:c.1367A>C (CACNB2)	ENSP00000366548.4:p.His456Pro
ENST00000643096.2:c.1544A>C (CACNB2)	ENSP00000494209.2:p.His515Pro
ENST00000645287.1:c.1586A>C (CACNB2)	ENSP00000496203.1:p.His529Pro
ENST00000647168.2:c.*883A>C (CACNB2)	ENSP00000495854.2:n.*883A>C
ENST00000650685.1:c.1484A>C (CACNB2)	ENSP00000498460.1:p.His495Pro
ENST00000651330.1:c.*1016A>C (CACNB2)	ENSP00000498457.1:n.*1016A>C
ENST00000651468.1:c.1299A>C (CACNB2)	ENSP00000498352.1:n.1299A>C
ENST00000651928.1:c.*981A>C (CACNB2)	ENSP00000499177.1:n.*981A>C
ENST00000652391.1:c.1562A>C (CACNB2)	ENSP00000498938.1:p.His521Pro
ENST00000652478.1:c.*842A>C (CACNB2)	ENSP00000498812.1:n.*842A>C
ENST00000282343.12:c.1658A>C (CACNB2)	ENSP00000282343.8:p.His553Pro
ENST00000324631.11:c.1742A>C (CACNB2)	ENSP00000320025.7:p.His581Pro
ENST00000352115.10:c.1670A>C (CACNB2)	ENSP00000344474.6:p.His557Pro
ENST00000377315.4:c.1598A>C (CACNB2)	ENSP00000366532.4:p.His533Pro
ENST00000377319.7:c.1463A>C (CACNB2)	ENSP00000366536.3:p.His488Pro
ENST00000377328.5:c.992A>C (CACNB2)	ENSP00000366545.1:p.His331Pro
ENST00000377329.8:c.1580A>C (CACNB2)	ENSP00000366546.4:p.His527Pro
ENST00000377331.6:c.1586A>C (CACNB2)	ENSP00000366548.2:p.His529Pro
ENST00000396576.6:c.1577A>C (CACNB2)	ENSP00000379821.2:p.His526Pro
ENST00000612134.4:c.1446A>C (CACNB2)	ENSP00000480563.1:n.1446A>C
ENST00000612743.1:c.254A>C (CACNB2)	ENSP00000478676.1:p.His85Pro
ENST00000615785.4:c.827A>C (CACNB2)	ENSP00000480260.1:p.His276Pro
ENST00000617363.4:c.1505A>C (CACNB2)	ENSP00000479756.1:p.His502Pro
NM_000724.3:c.1577A>C (CACNB2)	NP_000715.2:p.His526Pro
NM_001167945.1:c.1544A>C (CACNB2)	NP_001161417.1:p.His515Pro
NM_201570.2:c.1598A>C (CACNB2)	NP_963864.1:p.His533Pro
NM_201571.3:c.1658A>C (CACNB2)	NP_963865.2:p.His553Pro
NM_201572.3:c.1586A>C (CACNB2)	NP_963866.2:p.His529Pro
NM_201590.2:c.1580A>C (CACNB2)	NP_963884.2:p.His527Pro
NM_201593.2:c.1628A>C (CACNB2)	NP_963887.2:p.His543Pro
NM_201596.2:c.1742A>C (CACNB2)	NP_963890.2:p.His581Pro
NM_201597.2:c.1670A>C (CACNB2)	NP_963891.1:p.His557Pro
XM_005252588.2:c.1484A>C (CACNB2)	XP_005252645.1:p.His495Pro
XM_005252591.2:c.902A>C (CACNB2)	XP_005252648.1:p.His301Pro
XM_006717502.2:c.1562A>C (CACNB2)	XP_006717565.1:p.His521Pro
XM_011519659.1:c.1508A>C (CACNB2)	XP_011517961.1:p.His503Pro
XM_011519660.1:c.1463A>C (CACNB2)	XP_011517962.1:p.His488Pro
NM_001330060.1:c.1463A>C (CACNB2)	NP_001316989.1:p.His488Pro
XM_005252588.4:c.1484A>C (CACNB2)	XP_005252645.1:p.His495Pro
XM_005252591.3:c.902A>C (CACNB2)	XP_005252648.1:p.His301Pro
XM_006717502.3:c.1562A>C (CACNB2)	XP_006717565.1:p.His521Pro
XM_011519659.2:c.1508A>C (CACNB2)	XP_011517961.1:p.His503Pro
XM_017016625.1:c.902A>C (CACNB2)	XP_016872114.1:p.His301Pro
XR_001747060.1:n.2423+2586T>G (NSUN6)
XR_001747198.1:n.1867A>C (CACNB2)
NM_000724.4:c.1577A>C (CACNB2)	NP_000715.2:p.His526Pro
NM_001167945.2:c.1544A>C (CACNB2)	NP_001161417.1:p.His515Pro
NM_001330060.2:c.1463A>C (CACNB2)	NP_001316989.1:p.His488Pro
NM_201570.3:c.1598A>C (CACNB2)	NP_963864.1:p.His533Pro
NM_201571.4:c.1658A>C (CACNB2)	NP_963865.2:p.His553Pro
NM_201572.4:c.1586A>C (CACNB2)	NP_963866.2:p.His529Pro
NM_201590.3:c.1580A>C (CACNB2) MANE Plus Clinical	NP_963884.2:p.His527Pro
NM_201593.3:c.1628A>C (CACNB2)	NP_963887.2:p.His543Pro
NM_201596.3:c.1742A>C (CACNB2) MANE Select	NP_963890.2:p.His581Pro
NM_201597.3:c.1670A>C (CACNB2)	NP_963891.1:p.His557Pro