Canonical Allele Identifier: CA376071927

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828398T>G (hg19) ; chr10:g.18539469T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539469T>G , CM000672.2:g.18539469T>G	GRCh38
NC_000010.10:g.18828398T>G , CM000672.1:g.18828398T>G	GRCh37
NC_000010.9:g.18868404T>G	NCBI36
NG_016195.1:g.403793T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1584T>G (CACNB2)	ENSP00000366532.4:p.His528Gln
ENST00000377319.9:c.1449T>G (CACNB2)	ENSP00000366536.3:p.His483Gln
ENST00000645287.2:c.1572T>G (CACNB2)	ENSP00000496203.1:p.His524Gln
ENST00000282343.13:c.1644T>G (CACNB2)	ENSP00000282343.8:p.His548Gln
ENST00000324631.13:c.1728T>G (CACNB2) MANE Select	ENSP00000320025.8:p.His576Gln
ENST00000377315.5:c.1584T>G (CACNB2)	ENSP00000366532.4:p.His528Gln
ENST00000377319.8:c.1449T>G (CACNB2)	ENSP00000366536.3:p.His483Gln
ENST00000377329.10:c.1566T>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His522Gln
ENST00000377331.8:c.1353T>G (CACNB2)	ENSP00000366548.4:p.His451Gln
ENST00000643096.2:c.1530T>G (CACNB2)	ENSP00000494209.2:p.His510Gln
ENST00000645287.1:c.1572T>G (CACNB2)	ENSP00000496203.1:p.His524Gln
ENST00000647168.2:c.*869T>G (CACNB2)	ENSP00000495854.2:n.*869T>G
ENST00000650685.1:c.1470T>G (CACNB2)	ENSP00000498460.1:p.His490Gln
ENST00000651330.1:c.*1002T>G (CACNB2)	ENSP00000498457.1:n.*1002T>G
ENST00000651468.1:c.1285T>G (CACNB2)	ENSP00000498352.1:n.1285T>G
ENST00000651928.1:c.*967T>G (CACNB2)	ENSP00000499177.1:n.*967T>G
ENST00000652391.1:c.1548T>G (CACNB2)	ENSP00000498938.1:p.His516Gln
ENST00000652478.1:c.*828T>G (CACNB2)	ENSP00000498812.1:n.*828T>G
ENST00000282343.12:c.1644T>G (CACNB2)	ENSP00000282343.8:p.His548Gln
ENST00000324631.11:c.1728T>G (CACNB2)	ENSP00000320025.7:p.His576Gln
ENST00000352115.10:c.1656T>G (CACNB2)	ENSP00000344474.6:p.His552Gln
ENST00000377315.4:c.1584T>G (CACNB2)	ENSP00000366532.4:p.His528Gln
ENST00000377319.7:c.1449T>G (CACNB2)	ENSP00000366536.3:p.His483Gln
ENST00000377328.5:c.978T>G (CACNB2)	ENSP00000366545.1:p.His326Gln
ENST00000377329.8:c.1566T>G (CACNB2)	ENSP00000366546.4:p.His522Gln
ENST00000377331.6:c.1572T>G (CACNB2)	ENSP00000366548.2:p.His524Gln
ENST00000396576.6:c.1563T>G (CACNB2)	ENSP00000379821.2:p.His521Gln
ENST00000612134.4:c.1432T>G (CACNB2)	ENSP00000480563.1:n.1432T>G
ENST00000612743.1:c.240T>G (CACNB2)	ENSP00000478676.1:p.His80Gln
ENST00000615785.4:c.813T>G (CACNB2)	ENSP00000480260.1:p.His271Gln
ENST00000617363.4:c.1491T>G (CACNB2)	ENSP00000479756.1:p.His497Gln
NM_000724.3:c.1563T>G (CACNB2)	NP_000715.2:p.His521Gln
NM_001167945.1:c.1530T>G (CACNB2)	NP_001161417.1:p.His510Gln
NM_201570.2:c.1584T>G (CACNB2)	NP_963864.1:p.His528Gln
NM_201571.3:c.1644T>G (CACNB2)	NP_963865.2:p.His548Gln
NM_201572.3:c.1572T>G (CACNB2)	NP_963866.2:p.His524Gln
NM_201590.2:c.1566T>G (CACNB2)	NP_963884.2:p.His522Gln
NM_201593.2:c.1614T>G (CACNB2)	NP_963887.2:p.His538Gln
NM_201596.2:c.1728T>G (CACNB2)	NP_963890.2:p.His576Gln
NM_201597.2:c.1656T>G (CACNB2)	NP_963891.1:p.His552Gln
XM_005252588.2:c.1470T>G (CACNB2)	XP_005252645.1:p.His490Gln
XM_005252591.2:c.888T>G (CACNB2)	XP_005252648.1:p.His296Gln
XM_006717502.2:c.1548T>G (CACNB2)	XP_006717565.1:p.His516Gln
XM_011519659.1:c.1494T>G (CACNB2)	XP_011517961.1:p.His498Gln
XM_011519660.1:c.1449T>G (CACNB2)	XP_011517962.1:p.His483Gln
NM_001330060.1:c.1449T>G (CACNB2)	NP_001316989.1:p.His483Gln
XM_005252588.4:c.1470T>G (CACNB2)	XP_005252645.1:p.His490Gln
XM_005252591.3:c.888T>G (CACNB2)	XP_005252648.1:p.His296Gln
XM_006717502.3:c.1548T>G (CACNB2)	XP_006717565.1:p.His516Gln
XM_011519659.2:c.1494T>G (CACNB2)	XP_011517961.1:p.His498Gln
XM_017016625.1:c.888T>G (CACNB2)	XP_016872114.1:p.His296Gln
XR_001747060.1:n.2423+2600A>C (NSUN6)
XR_001747198.1:n.1853T>G (CACNB2)
NM_000724.4:c.1563T>G (CACNB2)	NP_000715.2:p.His521Gln
NM_001167945.2:c.1530T>G (CACNB2)	NP_001161417.1:p.His510Gln
NM_001330060.2:c.1449T>G (CACNB2)	NP_001316989.1:p.His483Gln
NM_201570.3:c.1584T>G (CACNB2)	NP_963864.1:p.His528Gln
NM_201571.4:c.1644T>G (CACNB2)	NP_963865.2:p.His548Gln
NM_201572.4:c.1572T>G (CACNB2)	NP_963866.2:p.His524Gln
NM_201590.3:c.1566T>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.His522Gln
NM_201593.3:c.1614T>G (CACNB2)	NP_963887.2:p.His538Gln
NM_201596.3:c.1728T>G (CACNB2) MANE Select	NP_963890.2:p.His576Gln
NM_201597.3:c.1656T>G (CACNB2)	NP_963891.1:p.His552Gln