Canonical Allele Identifier: CA376072088

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828433A>T (hg19) ; chr10:g.18539504A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539504A>T , CM000672.2:g.18539504A>T	GRCh38
NC_000010.10:g.18828433A>T , CM000672.1:g.18828433A>T	GRCh37
NC_000010.9:g.18868439A>T	NCBI36
NG_016195.1:g.403828A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1619A>T (CACNB2)	ENSP00000366532.4:p.His540Leu
ENST00000377319.9:c.1484A>T (CACNB2)	ENSP00000366536.3:p.His495Leu
ENST00000645287.2:c.1607A>T (CACNB2)	ENSP00000496203.1:p.His536Leu
ENST00000282343.13:c.1679A>T (CACNB2)	ENSP00000282343.8:p.His560Leu
ENST00000324631.13:c.1763A>T (CACNB2) MANE Select	ENSP00000320025.8:p.His588Leu
ENST00000377315.5:c.1619A>T (CACNB2)	ENSP00000366532.4:p.His540Leu
ENST00000377319.8:c.1484A>T (CACNB2)	ENSP00000366536.3:p.His495Leu
ENST00000377329.10:c.1601A>T (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His534Leu
ENST00000377331.8:c.1388A>T (CACNB2)	ENSP00000366548.4:p.His463Leu
ENST00000643096.2:c.1565A>T (CACNB2)	ENSP00000494209.2:p.His522Leu
ENST00000645287.1:c.1607A>T (CACNB2)	ENSP00000496203.1:p.His536Leu
ENST00000647168.2:c.*904A>T (CACNB2)	ENSP00000495854.2:n.*904A>T
ENST00000650685.1:c.1505A>T (CACNB2)	ENSP00000498460.1:p.His502Leu
ENST00000651330.1:c.*1037A>T (CACNB2)	ENSP00000498457.1:n.*1037A>T
ENST00000651468.1:c.1320A>T (CACNB2)	ENSP00000498352.1:n.1320A>T
ENST00000651928.1:c.*1002A>T (CACNB2)	ENSP00000499177.1:n.*1002A>T
ENST00000652391.1:c.1583A>T (CACNB2)	ENSP00000498938.1:p.His528Leu
ENST00000652478.1:c.*863A>T (CACNB2)	ENSP00000498812.1:n.*863A>T
ENST00000282343.12:c.1679A>T (CACNB2)	ENSP00000282343.8:p.His560Leu
ENST00000324631.11:c.1763A>T (CACNB2)	ENSP00000320025.7:p.His588Leu
ENST00000352115.10:c.1691A>T (CACNB2)	ENSP00000344474.6:p.His564Leu
ENST00000377315.4:c.1619A>T (CACNB2)	ENSP00000366532.4:p.His540Leu
ENST00000377319.7:c.1484A>T (CACNB2)	ENSP00000366536.3:p.His495Leu
ENST00000377328.5:c.1013A>T (CACNB2)	ENSP00000366545.1:p.His338Leu
ENST00000377329.8:c.1601A>T (CACNB2)	ENSP00000366546.4:p.His534Leu
ENST00000377331.6:c.1607A>T (CACNB2)	ENSP00000366548.2:p.His536Leu
ENST00000396576.6:c.1598A>T (CACNB2)	ENSP00000379821.2:p.His533Leu
ENST00000612134.4:c.1467A>T (CACNB2)	ENSP00000480563.1:n.1467A>T
ENST00000612743.1:c.275A>T (CACNB2)	ENSP00000478676.1:p.His92Leu
ENST00000615785.4:c.848A>T (CACNB2)	ENSP00000480260.1:p.His283Leu
ENST00000617363.4:c.1526A>T (CACNB2)	ENSP00000479756.1:p.His509Leu
NM_000724.3:c.1598A>T (CACNB2)	NP_000715.2:p.His533Leu
NM_001167945.1:c.1565A>T (CACNB2)	NP_001161417.1:p.His522Leu
NM_201570.2:c.1619A>T (CACNB2)	NP_963864.1:p.His540Leu
NM_201571.3:c.1679A>T (CACNB2)	NP_963865.2:p.His560Leu
NM_201572.3:c.1607A>T (CACNB2)	NP_963866.2:p.His536Leu
NM_201590.2:c.1601A>T (CACNB2)	NP_963884.2:p.His534Leu
NM_201593.2:c.1649A>T (CACNB2)	NP_963887.2:p.His550Leu
NM_201596.2:c.1763A>T (CACNB2)	NP_963890.2:p.His588Leu
NM_201597.2:c.1691A>T (CACNB2)	NP_963891.1:p.His564Leu
XM_005252588.2:c.1505A>T (CACNB2)	XP_005252645.1:p.His502Leu
XM_005252591.2:c.923A>T (CACNB2)	XP_005252648.1:p.His308Leu
XM_006717502.2:c.1583A>T (CACNB2)	XP_006717565.1:p.His528Leu
XM_011519659.1:c.1529A>T (CACNB2)	XP_011517961.1:p.His510Leu
XM_011519660.1:c.1484A>T (CACNB2)	XP_011517962.1:p.His495Leu
NM_001330060.1:c.1484A>T (CACNB2)	NP_001316989.1:p.His495Leu
XM_005252588.4:c.1505A>T (CACNB2)	XP_005252645.1:p.His502Leu
XM_005252591.3:c.923A>T (CACNB2)	XP_005252648.1:p.His308Leu
XM_006717502.3:c.1583A>T (CACNB2)	XP_006717565.1:p.His528Leu
XM_011519659.2:c.1529A>T (CACNB2)	XP_011517961.1:p.His510Leu
XM_017016625.1:c.923A>T (CACNB2)	XP_016872114.1:p.His308Leu
XR_001747060.1:n.2423+2565T>A (NSUN6)
XR_001747198.1:n.1888A>T (CACNB2)
NM_000724.4:c.1598A>T (CACNB2)	NP_000715.2:p.His533Leu
NM_001167945.2:c.1565A>T (CACNB2)	NP_001161417.1:p.His522Leu
NM_001330060.2:c.1484A>T (CACNB2)	NP_001316989.1:p.His495Leu
NM_201570.3:c.1619A>T (CACNB2)	NP_963864.1:p.His540Leu
NM_201571.4:c.1679A>T (CACNB2)	NP_963865.2:p.His560Leu
NM_201572.4:c.1607A>T (CACNB2)	NP_963866.2:p.His536Leu
NM_201590.3:c.1601A>T (CACNB2) MANE Plus Clinical	NP_963884.2:p.His534Leu
NM_201593.3:c.1649A>T (CACNB2)	NP_963887.2:p.His550Leu
NM_201596.3:c.1763A>T (CACNB2) MANE Select	NP_963890.2:p.His588Leu
NM_201597.3:c.1691A>T (CACNB2)	NP_963891.1:p.His564Leu