Canonical Allele Identifier: CA376072239

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828459A>T (hg19) ; chr10:g.18539530A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539530A>T , CM000672.2:g.18539530A>T	GRCh38
NC_000010.10:g.18828459A>T , CM000672.1:g.18828459A>T	GRCh37
NC_000010.9:g.18868465A>T	NCBI36
NG_016195.1:g.403854A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1645A>T (CACNB2)	ENSP00000366532.4:p.Ser549Cys
ENST00000377319.9:c.1510A>T (CACNB2)	ENSP00000366536.3:p.Ser504Cys
ENST00000645287.2:c.1633A>T (CACNB2)	ENSP00000496203.1:p.Ser545Cys
ENST00000282343.13:c.1705A>T (CACNB2)	ENSP00000282343.8:p.Ser569Cys
ENST00000324631.13:c.1789A>T (CACNB2) MANE Select	ENSP00000320025.8:p.Ser597Cys
ENST00000377315.5:c.1645A>T (CACNB2)	ENSP00000366532.4:p.Ser549Cys
ENST00000377319.8:c.1510A>T (CACNB2)	ENSP00000366536.3:p.Ser504Cys
ENST00000377329.10:c.1627A>T (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Ser543Cys
ENST00000377331.8:c.1414A>T (CACNB2)	ENSP00000366548.4:p.Ser472Cys
ENST00000643096.2:c.1591A>T (CACNB2)	ENSP00000494209.2:p.Ser531Cys
ENST00000645287.1:c.1633A>T (CACNB2)	ENSP00000496203.1:p.Ser545Cys
ENST00000647168.2:c.*930A>T (CACNB2)	ENSP00000495854.2:n.*930A>T
ENST00000650685.1:c.1531A>T (CACNB2)	ENSP00000498460.1:p.Ser511Cys
ENST00000651330.1:c.*1063A>T (CACNB2)	ENSP00000498457.1:n.*1063A>T
ENST00000651468.1:c.1346A>T (CACNB2)	ENSP00000498352.1:n.1346A>T
ENST00000651928.1:c.*1028A>T (CACNB2)	ENSP00000499177.1:n.*1028A>T
ENST00000652391.1:c.1609A>T (CACNB2)	ENSP00000498938.1:p.Ser537Cys
ENST00000652478.1:c.*889A>T (CACNB2)	ENSP00000498812.1:n.*889A>T
ENST00000282343.12:c.1705A>T (CACNB2)	ENSP00000282343.8:p.Ser569Cys
ENST00000324631.11:c.1789A>T (CACNB2)	ENSP00000320025.7:p.Ser597Cys
ENST00000352115.10:c.1717A>T (CACNB2)	ENSP00000344474.6:p.Ser573Cys
ENST00000377315.4:c.1645A>T (CACNB2)	ENSP00000366532.4:p.Ser549Cys
ENST00000377319.7:c.1510A>T (CACNB2)	ENSP00000366536.3:p.Ser504Cys
ENST00000377328.5:c.1039A>T (CACNB2)	ENSP00000366545.1:p.Ser347Cys
ENST00000377329.8:c.1627A>T (CACNB2)	ENSP00000366546.4:p.Ser543Cys
ENST00000377331.6:c.1633A>T (CACNB2)	ENSP00000366548.2:p.Ser545Cys
ENST00000396576.6:c.1624A>T (CACNB2)	ENSP00000379821.2:p.Ser542Cys
ENST00000612134.4:c.1493A>T (CACNB2)	ENSP00000480563.1:n.1493A>T
ENST00000612743.1:c.301A>T (CACNB2)	ENSP00000478676.1:p.Ser101Cys
ENST00000615785.4:c.874A>T (CACNB2)	ENSP00000480260.1:p.Ser292Cys
ENST00000617363.4:c.1552A>T (CACNB2)	ENSP00000479756.1:p.Ser518Cys
NM_000724.3:c.1624A>T (CACNB2)	NP_000715.2:p.Ser542Cys
NM_001167945.1:c.1591A>T (CACNB2)	NP_001161417.1:p.Ser531Cys
NM_201570.2:c.1645A>T (CACNB2)	NP_963864.1:p.Ser549Cys
NM_201571.3:c.1705A>T (CACNB2)	NP_963865.2:p.Ser569Cys
NM_201572.3:c.1633A>T (CACNB2)	NP_963866.2:p.Ser545Cys
NM_201590.2:c.1627A>T (CACNB2)	NP_963884.2:p.Ser543Cys
NM_201593.2:c.1675A>T (CACNB2)	NP_963887.2:p.Ser559Cys
NM_201596.2:c.1789A>T (CACNB2)	NP_963890.2:p.Ser597Cys
NM_201597.2:c.1717A>T (CACNB2)	NP_963891.1:p.Ser573Cys
XM_005252588.2:c.1531A>T (CACNB2)	XP_005252645.1:p.Ser511Cys
XM_005252591.2:c.949A>T (CACNB2)	XP_005252648.1:p.Ser317Cys
XM_006717502.2:c.1609A>T (CACNB2)	XP_006717565.1:p.Ser537Cys
XM_011519659.1:c.1555A>T (CACNB2)	XP_011517961.1:p.Ser519Cys
XM_011519660.1:c.1510A>T (CACNB2)	XP_011517962.1:p.Ser504Cys
NM_001330060.1:c.1510A>T (CACNB2)	NP_001316989.1:p.Ser504Cys
XM_005252588.4:c.1531A>T (CACNB2)	XP_005252645.1:p.Ser511Cys
XM_005252591.3:c.949A>T (CACNB2)	XP_005252648.1:p.Ser317Cys
XM_006717502.3:c.1609A>T (CACNB2)	XP_006717565.1:p.Ser537Cys
XM_011519659.2:c.1555A>T (CACNB2)	XP_011517961.1:p.Ser519Cys
XM_017016625.1:c.949A>T (CACNB2)	XP_016872114.1:p.Ser317Cys
XR_001747060.1:n.2423+2539T>A (NSUN6)
XR_001747198.1:n.1914A>T (CACNB2)
NM_000724.4:c.1624A>T (CACNB2)	NP_000715.2:p.Ser542Cys
NM_001167945.2:c.1591A>T (CACNB2)	NP_001161417.1:p.Ser531Cys
NM_001330060.2:c.1510A>T (CACNB2)	NP_001316989.1:p.Ser504Cys
NM_201570.3:c.1645A>T (CACNB2)	NP_963864.1:p.Ser549Cys
NM_201571.4:c.1705A>T (CACNB2)	NP_963865.2:p.Ser569Cys
NM_201572.4:c.1633A>T (CACNB2)	NP_963866.2:p.Ser545Cys
NM_201590.3:c.1627A>T (CACNB2) MANE Plus Clinical	NP_963884.2:p.Ser543Cys
NM_201593.3:c.1675A>T (CACNB2)	NP_963887.2:p.Ser559Cys
NM_201596.3:c.1789A>T (CACNB2) MANE Select	NP_963890.2:p.Ser597Cys
NM_201597.3:c.1717A>T (CACNB2)	NP_963891.1:p.Ser573Cys