Canonical Allele Identifier: CA5430140

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs539824188
• ExAC: 10:18828384 G / A
• gnomAD v2: 10-18828384-G-A
• gnomAD v3: 10-18539455-G-A
• gnomAD v4: 10-18539455-G-A
• COSMIC: COSM3436392 ; COSM3436393 ; COSM3436394 ; COSM3436395 ; COSM3436396
• MyVariant Identifiers: chr10:g.18828384G>A (hg19) ; chr10:g.18539455G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539455G>A , CM000672.2:g.18539455G>A	GRCh38
NC_000010.10:g.18828384G>A , CM000672.1:g.18828384G>A	GRCh37
NC_000010.9:g.18868390G>A	NCBI36
NG_016195.1:g.403779G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1570G>A (CACNB2)	ENSP00000366532.4:p.Glu524Lys
ENST00000377319.9:c.1435G>A (CACNB2)	ENSP00000366536.3:p.Glu479Lys
ENST00000645287.2:c.1558G>A (CACNB2)	ENSP00000496203.1:p.Glu520Lys
ENST00000282343.13:c.1630G>A (CACNB2)	ENSP00000282343.8:p.Glu544Lys
ENST00000324631.13:c.1714G>A (CACNB2) MANE Select	ENSP00000320025.8:p.Glu572Lys
ENST00000377315.5:c.1570G>A (CACNB2)	ENSP00000366532.4:p.Glu524Lys
ENST00000377319.8:c.1435G>A (CACNB2)	ENSP00000366536.3:p.Glu479Lys
ENST00000377329.10:c.1552G>A (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Glu518Lys
ENST00000377331.8:c.1339G>A (CACNB2)	ENSP00000366548.4:p.Glu447Lys
ENST00000643096.2:c.1516G>A (CACNB2)	ENSP00000494209.2:p.Glu506Lys
ENST00000645287.1:c.1558G>A (CACNB2)	ENSP00000496203.1:p.Glu520Lys
ENST00000647168.2:c.*855G>A (CACNB2)	ENSP00000495854.2:n.*855G>A
ENST00000650685.1:c.1456G>A (CACNB2)	ENSP00000498460.1:p.Glu486Lys
ENST00000651330.1:c.*988G>A (CACNB2)	ENSP00000498457.1:n.*988G>A
ENST00000651468.1:c.1271G>A (CACNB2)	ENSP00000498352.1:n.1271G>A
ENST00000651928.1:c.*953G>A (CACNB2)	ENSP00000499177.1:n.*953G>A
ENST00000652391.1:c.1534G>A (CACNB2)	ENSP00000498938.1:p.Glu512Lys
ENST00000652478.1:c.*814G>A (CACNB2)	ENSP00000498812.1:n.*814G>A
ENST00000282343.12:c.1630G>A (CACNB2)	ENSP00000282343.8:p.Glu544Lys
ENST00000324631.11:c.1714G>A (CACNB2)	ENSP00000320025.7:p.Glu572Lys
ENST00000352115.10:c.1642G>A (CACNB2)	ENSP00000344474.6:p.Glu548Lys
ENST00000377315.4:c.1570G>A (CACNB2)	ENSP00000366532.4:p.Glu524Lys
ENST00000377319.7:c.1435G>A (CACNB2)	ENSP00000366536.3:p.Glu479Lys
ENST00000377328.5:c.964G>A (CACNB2)	ENSP00000366545.1:p.Glu322Lys
ENST00000377329.8:c.1552G>A (CACNB2)	ENSP00000366546.4:p.Glu518Lys
ENST00000377331.6:c.1558G>A (CACNB2)	ENSP00000366548.2:p.Glu520Lys
ENST00000396576.6:c.1549G>A (CACNB2)	ENSP00000379821.2:p.Glu517Lys
ENST00000612134.4:c.1418G>A (CACNB2)	ENSP00000480563.1:n.1418G>A
ENST00000612743.1:c.226G>A (CACNB2)	ENSP00000478676.1:p.Glu76Lys
ENST00000615785.4:c.799G>A (CACNB2)	ENSP00000480260.1:p.Glu267Lys
ENST00000617363.4:c.1477G>A (CACNB2)	ENSP00000479756.1:p.Glu493Lys
NM_000724.3:c.1549G>A (CACNB2)	NP_000715.2:p.Glu517Lys
NM_001167945.1:c.1516G>A (CACNB2)	NP_001161417.1:p.Glu506Lys
NM_201570.2:c.1570G>A (CACNB2)	NP_963864.1:p.Glu524Lys
NM_201571.3:c.1630G>A (CACNB2)	NP_963865.2:p.Glu544Lys
NM_201572.3:c.1558G>A (CACNB2)	NP_963866.2:p.Glu520Lys
NM_201590.2:c.1552G>A (CACNB2)	NP_963884.2:p.Glu518Lys
NM_201593.2:c.1600G>A (CACNB2)	NP_963887.2:p.Glu534Lys
NM_201596.2:c.1714G>A (CACNB2)	NP_963890.2:p.Glu572Lys
NM_201597.2:c.1642G>A (CACNB2)	NP_963891.1:p.Glu548Lys
XM_005252588.2:c.1456G>A (CACNB2)	XP_005252645.1:p.Glu486Lys
XM_005252591.2:c.874G>A (CACNB2)	XP_005252648.1:p.Glu292Lys
XM_006717502.2:c.1534G>A (CACNB2)	XP_006717565.1:p.Glu512Lys
XM_011519659.1:c.1480G>A (CACNB2)	XP_011517961.1:p.Glu494Lys
XM_011519660.1:c.1435G>A (CACNB2)	XP_011517962.1:p.Glu479Lys
NM_001330060.1:c.1435G>A (CACNB2)	NP_001316989.1:p.Glu479Lys
XM_005252588.4:c.1456G>A (CACNB2)	XP_005252645.1:p.Glu486Lys
XM_005252591.3:c.874G>A (CACNB2)	XP_005252648.1:p.Glu292Lys
XM_006717502.3:c.1534G>A (CACNB2)	XP_006717565.1:p.Glu512Lys
XM_011519659.2:c.1480G>A (CACNB2)	XP_011517961.1:p.Glu494Lys
XM_017016625.1:c.874G>A (CACNB2)	XP_016872114.1:p.Glu292Lys
XR_001747060.1:n.2423+2614C>T (NSUN6)
XR_001747198.1:n.1839G>A (CACNB2)
NM_000724.4:c.1549G>A (CACNB2)	NP_000715.2:p.Glu517Lys
NM_001167945.2:c.1516G>A (CACNB2)	NP_001161417.1:p.Glu506Lys
NM_001330060.2:c.1435G>A (CACNB2)	NP_001316989.1:p.Glu479Lys
NM_201570.3:c.1570G>A (CACNB2)	NP_963864.1:p.Glu524Lys
NM_201571.4:c.1630G>A (CACNB2)	NP_963865.2:p.Glu544Lys
NM_201572.4:c.1558G>A (CACNB2)	NP_963866.2:p.Glu520Lys
NM_201590.3:c.1552G>A (CACNB2) MANE Plus Clinical	NP_963884.2:p.Glu518Lys
NM_201593.3:c.1600G>A (CACNB2)	NP_963887.2:p.Glu534Lys
NM_201596.3:c.1714G>A (CACNB2) MANE Select	NP_963890.2:p.Glu572Lys
NM_201597.3:c.1642G>A (CACNB2)	NP_963891.1:p.Glu548Lys