Canonical Allele Identifier: CA376071962

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828408G>A (hg19) ; chr10:g.18539479G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539479G>A , CM000672.2:g.18539479G>A	GRCh38
NC_000010.10:g.18828408G>A , CM000672.1:g.18828408G>A	GRCh37
NC_000010.9:g.18868414G>A	NCBI36
NG_016195.1:g.403803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1594G>A (CACNB2)	ENSP00000366532.4:p.Asp532Asn
ENST00000377319.9:c.1459G>A (CACNB2)	ENSP00000366536.3:p.Asp487Asn
ENST00000645287.2:c.1582G>A (CACNB2)	ENSP00000496203.1:p.Asp528Asn
ENST00000282343.13:c.1654G>A (CACNB2)	ENSP00000282343.8:p.Asp552Asn
ENST00000324631.13:c.1738G>A (CACNB2) MANE Select	ENSP00000320025.8:p.Asp580Asn
ENST00000377315.5:c.1594G>A (CACNB2)	ENSP00000366532.4:p.Asp532Asn
ENST00000377319.8:c.1459G>A (CACNB2)	ENSP00000366536.3:p.Asp487Asn
ENST00000377329.10:c.1576G>A (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asp526Asn
ENST00000377331.8:c.1363G>A (CACNB2)	ENSP00000366548.4:p.Asp455Asn
ENST00000643096.2:c.1540G>A (CACNB2)	ENSP00000494209.2:p.Asp514Asn
ENST00000645287.1:c.1582G>A (CACNB2)	ENSP00000496203.1:p.Asp528Asn
ENST00000647168.2:c.*879G>A (CACNB2)	ENSP00000495854.2:n.*879G>A
ENST00000650685.1:c.1480G>A (CACNB2)	ENSP00000498460.1:p.Asp494Asn
ENST00000651330.1:c.*1012G>A (CACNB2)	ENSP00000498457.1:n.*1012G>A
ENST00000651468.1:c.1295G>A (CACNB2)	ENSP00000498352.1:n.1295G>A
ENST00000651928.1:c.*977G>A (CACNB2)	ENSP00000499177.1:n.*977G>A
ENST00000652391.1:c.1558G>A (CACNB2)	ENSP00000498938.1:p.Asp520Asn
ENST00000652478.1:c.*838G>A (CACNB2)	ENSP00000498812.1:n.*838G>A
ENST00000282343.12:c.1654G>A (CACNB2)	ENSP00000282343.8:p.Asp552Asn
ENST00000324631.11:c.1738G>A (CACNB2)	ENSP00000320025.7:p.Asp580Asn
ENST00000352115.10:c.1666G>A (CACNB2)	ENSP00000344474.6:p.Asp556Asn
ENST00000377315.4:c.1594G>A (CACNB2)	ENSP00000366532.4:p.Asp532Asn
ENST00000377319.7:c.1459G>A (CACNB2)	ENSP00000366536.3:p.Asp487Asn
ENST00000377328.5:c.988G>A (CACNB2)	ENSP00000366545.1:p.Asp330Asn
ENST00000377329.8:c.1576G>A (CACNB2)	ENSP00000366546.4:p.Asp526Asn
ENST00000377331.6:c.1582G>A (CACNB2)	ENSP00000366548.2:p.Asp528Asn
ENST00000396576.6:c.1573G>A (CACNB2)	ENSP00000379821.2:p.Asp525Asn
ENST00000612134.4:c.1442G>A (CACNB2)	ENSP00000480563.1:n.1442G>A
ENST00000612743.1:c.250G>A (CACNB2)	ENSP00000478676.1:p.Asp84Asn
ENST00000615785.4:c.823G>A (CACNB2)	ENSP00000480260.1:p.Asp275Asn
ENST00000617363.4:c.1501G>A (CACNB2)	ENSP00000479756.1:p.Asp501Asn
NM_000724.3:c.1573G>A (CACNB2)	NP_000715.2:p.Asp525Asn
NM_001167945.1:c.1540G>A (CACNB2)	NP_001161417.1:p.Asp514Asn
NM_201570.2:c.1594G>A (CACNB2)	NP_963864.1:p.Asp532Asn
NM_201571.3:c.1654G>A (CACNB2)	NP_963865.2:p.Asp552Asn
NM_201572.3:c.1582G>A (CACNB2)	NP_963866.2:p.Asp528Asn
NM_201590.2:c.1576G>A (CACNB2)	NP_963884.2:p.Asp526Asn
NM_201593.2:c.1624G>A (CACNB2)	NP_963887.2:p.Asp542Asn
NM_201596.2:c.1738G>A (CACNB2)	NP_963890.2:p.Asp580Asn
NM_201597.2:c.1666G>A (CACNB2)	NP_963891.1:p.Asp556Asn
XM_005252588.2:c.1480G>A (CACNB2)	XP_005252645.1:p.Asp494Asn
XM_005252591.2:c.898G>A (CACNB2)	XP_005252648.1:p.Asp300Asn
XM_006717502.2:c.1558G>A (CACNB2)	XP_006717565.1:p.Asp520Asn
XM_011519659.1:c.1504G>A (CACNB2)	XP_011517961.1:p.Asp502Asn
XM_011519660.1:c.1459G>A (CACNB2)	XP_011517962.1:p.Asp487Asn
NM_001330060.1:c.1459G>A (CACNB2)	NP_001316989.1:p.Asp487Asn
XM_005252588.4:c.1480G>A (CACNB2)	XP_005252645.1:p.Asp494Asn
XM_005252591.3:c.898G>A (CACNB2)	XP_005252648.1:p.Asp300Asn
XM_006717502.3:c.1558G>A (CACNB2)	XP_006717565.1:p.Asp520Asn
XM_011519659.2:c.1504G>A (CACNB2)	XP_011517961.1:p.Asp502Asn
XM_017016625.1:c.898G>A (CACNB2)	XP_016872114.1:p.Asp300Asn
XR_001747060.1:n.2423+2590C>T (NSUN6)
XR_001747198.1:n.1863G>A (CACNB2)
NM_000724.4:c.1573G>A (CACNB2)	NP_000715.2:p.Asp525Asn
NM_001167945.2:c.1540G>A (CACNB2)	NP_001161417.1:p.Asp514Asn
NM_001330060.2:c.1459G>A (CACNB2)	NP_001316989.1:p.Asp487Asn
NM_201570.3:c.1594G>A (CACNB2)	NP_963864.1:p.Asp532Asn
NM_201571.4:c.1654G>A (CACNB2)	NP_963865.2:p.Asp552Asn
NM_201572.4:c.1582G>A (CACNB2)	NP_963866.2:p.Asp528Asn
NM_201590.3:c.1576G>A (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asp526Asn
NM_201593.3:c.1624G>A (CACNB2)	NP_963887.2:p.Asp542Asn
NM_201596.3:c.1738G>A (CACNB2) MANE Select	NP_963890.2:p.Asp580Asn
NM_201597.3:c.1666G>A (CACNB2)	NP_963891.1:p.Asp556Asn