Canonical Allele Identifier: CA376071757

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 1774558
• ClinVar RCV Id: RCV002400815
• MyVariant Identifiers: chr10:g.18828360G>C (hg19) ; chr10:g.18539431G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539431G>C , CM000672.2:g.18539431G>C	GRCh38
NC_000010.10:g.18828360G>C , CM000672.1:g.18828360G>C	GRCh37
NC_000010.9:g.18868366G>C	NCBI36
NG_016195.1:g.403755G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1546G>C (CACNB2)	ENSP00000366532.4:p.Asp516His
ENST00000377319.9:c.1411G>C (CACNB2)	ENSP00000366536.3:p.Asp471His
ENST00000645287.2:c.1534G>C (CACNB2)	ENSP00000496203.1:p.Asp512His
ENST00000282343.13:c.1606G>C (CACNB2)	ENSP00000282343.8:p.Asp536His
ENST00000324631.13:c.1690G>C (CACNB2) MANE Select	ENSP00000320025.8:p.Asp564His
ENST00000377315.5:c.1546G>C (CACNB2)	ENSP00000366532.4:p.Asp516His
ENST00000377319.8:c.1411G>C (CACNB2)	ENSP00000366536.3:p.Asp471His
ENST00000377329.10:c.1528G>C (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asp510His
ENST00000377331.8:c.1315G>C (CACNB2)	ENSP00000366548.4:p.Asp439His
ENST00000643096.2:c.1492G>C (CACNB2)	ENSP00000494209.2:p.Asp498His
ENST00000645287.1:c.1534G>C (CACNB2)	ENSP00000496203.1:p.Asp512His
ENST00000647168.2:c.*831G>C (CACNB2)	ENSP00000495854.2:n.*831G>C
ENST00000650685.1:c.1432G>C (CACNB2)	ENSP00000498460.1:p.Asp478His
ENST00000651330.1:c.*964G>C (CACNB2)	ENSP00000498457.1:n.*964G>C
ENST00000651468.1:c.1247G>C (CACNB2)	ENSP00000498352.1:n.1247G>C
ENST00000651928.1:c.*929G>C (CACNB2)	ENSP00000499177.1:n.*929G>C
ENST00000652391.1:c.1510G>C (CACNB2)	ENSP00000498938.1:p.Asp504His
ENST00000652478.1:c.*790G>C (CACNB2)	ENSP00000498812.1:n.*790G>C
ENST00000282343.12:c.1606G>C (CACNB2)	ENSP00000282343.8:p.Asp536His
ENST00000324631.11:c.1690G>C (CACNB2)	ENSP00000320025.7:p.Asp564His
ENST00000352115.10:c.1618G>C (CACNB2)	ENSP00000344474.6:p.Asp540His
ENST00000377315.4:c.1546G>C (CACNB2)	ENSP00000366532.4:p.Asp516His
ENST00000377319.7:c.1411G>C (CACNB2)	ENSP00000366536.3:p.Asp471His
ENST00000377328.5:c.940G>C (CACNB2)	ENSP00000366545.1:p.Asp314His
ENST00000377329.8:c.1528G>C (CACNB2)	ENSP00000366546.4:p.Asp510His
ENST00000377331.6:c.1534G>C (CACNB2)	ENSP00000366548.2:p.Asp512His
ENST00000396576.6:c.1525G>C (CACNB2)	ENSP00000379821.2:p.Asp509His
ENST00000612134.4:c.1394G>C (CACNB2)	ENSP00000480563.1:n.1394G>C
ENST00000612743.1:c.202G>C (CACNB2)	ENSP00000478676.1:p.Asp68His
ENST00000615785.4:c.775G>C (CACNB2)	ENSP00000480260.1:p.Asp259His
ENST00000617363.4:c.1453G>C (CACNB2)	ENSP00000479756.1:p.Asp485His
NM_000724.3:c.1525G>C (CACNB2)	NP_000715.2:p.Asp509His
NM_001167945.1:c.1492G>C (CACNB2)	NP_001161417.1:p.Asp498His
NM_201570.2:c.1546G>C (CACNB2)	NP_963864.1:p.Asp516His
NM_201571.3:c.1606G>C (CACNB2)	NP_963865.2:p.Asp536His
NM_201572.3:c.1534G>C (CACNB2)	NP_963866.2:p.Asp512His
NM_201590.2:c.1528G>C (CACNB2)	NP_963884.2:p.Asp510His
NM_201593.2:c.1576G>C (CACNB2)	NP_963887.2:p.Asp526His
NM_201596.2:c.1690G>C (CACNB2)	NP_963890.2:p.Asp564His
NM_201597.2:c.1618G>C (CACNB2)	NP_963891.1:p.Asp540His
XM_005252588.2:c.1432G>C (CACNB2)	XP_005252645.1:p.Asp478His
XM_005252591.2:c.850G>C (CACNB2)	XP_005252648.1:p.Asp284His
XM_006717502.2:c.1510G>C (CACNB2)	XP_006717565.1:p.Asp504His
XM_011519659.1:c.1456G>C (CACNB2)	XP_011517961.1:p.Asp486His
XM_011519660.1:c.1411G>C (CACNB2)	XP_011517962.1:p.Asp471His
NM_001330060.1:c.1411G>C (CACNB2)	NP_001316989.1:p.Asp471His
XM_005252588.4:c.1432G>C (CACNB2)	XP_005252645.1:p.Asp478His
XM_005252591.3:c.850G>C (CACNB2)	XP_005252648.1:p.Asp284His
XM_006717502.3:c.1510G>C (CACNB2)	XP_006717565.1:p.Asp504His
XM_011519659.2:c.1456G>C (CACNB2)	XP_011517961.1:p.Asp486His
XM_017016625.1:c.850G>C (CACNB2)	XP_016872114.1:p.Asp284His
XR_001747060.1:n.2423+2638C>G (NSUN6)
XR_001747198.1:n.1815G>C (CACNB2)
NM_000724.4:c.1525G>C (CACNB2)	NP_000715.2:p.Asp509His
NM_001167945.2:c.1492G>C (CACNB2)	NP_001161417.1:p.Asp498His
NM_001330060.2:c.1411G>C (CACNB2)	NP_001316989.1:p.Asp471His
NM_201570.3:c.1546G>C (CACNB2)	NP_963864.1:p.Asp516His
NM_201571.4:c.1606G>C (CACNB2)	NP_963865.2:p.Asp536His
NM_201572.4:c.1534G>C (CACNB2)	NP_963866.2:p.Asp512His
NM_201590.3:c.1528G>C (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asp510His
NM_201593.3:c.1576G>C (CACNB2)	NP_963887.2:p.Asp526His
NM_201596.3:c.1690G>C (CACNB2) MANE Select	NP_963890.2:p.Asp564His
NM_201597.3:c.1618G>C (CACNB2)	NP_963891.1:p.Asp540His