Canonical Allele Identifier: CA376072149

Gene: CACNB2 NSUN6

Linked Data

• gnomAD v4: 10-18539515-G-C
• MyVariant Identifiers: chr10:g.18828444G>C (hg19) ; chr10:g.18539515G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539515G>C , CM000672.2:g.18539515G>C	GRCh38
NC_000010.10:g.18828444G>C , CM000672.1:g.18828444G>C	GRCh37
NC_000010.9:g.18868450G>C	NCBI36
NG_016195.1:g.403839G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1630G>C (CACNB2)	ENSP00000366532.4:p.Asp544His
ENST00000377319.9:c.1495G>C (CACNB2)	ENSP00000366536.3:p.Asp499His
ENST00000645287.2:c.1618G>C (CACNB2)	ENSP00000496203.1:p.Asp540His
ENST00000282343.13:c.1690G>C (CACNB2)	ENSP00000282343.8:p.Asp564His
ENST00000324631.13:c.1774G>C (CACNB2) MANE Select	ENSP00000320025.8:p.Asp592His
ENST00000377315.5:c.1630G>C (CACNB2)	ENSP00000366532.4:p.Asp544His
ENST00000377319.8:c.1495G>C (CACNB2)	ENSP00000366536.3:p.Asp499His
ENST00000377329.10:c.1612G>C (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asp538His
ENST00000377331.8:c.1399G>C (CACNB2)	ENSP00000366548.4:p.Asp467His
ENST00000643096.2:c.1576G>C (CACNB2)	ENSP00000494209.2:p.Asp526His
ENST00000645287.1:c.1618G>C (CACNB2)	ENSP00000496203.1:p.Asp540His
ENST00000647168.2:c.*915G>C (CACNB2)	ENSP00000495854.2:n.*915G>C
ENST00000650685.1:c.1516G>C (CACNB2)	ENSP00000498460.1:p.Asp506His
ENST00000651330.1:c.*1048G>C (CACNB2)	ENSP00000498457.1:n.*1048G>C
ENST00000651468.1:c.1331G>C (CACNB2)	ENSP00000498352.1:n.1331G>C
ENST00000651928.1:c.*1013G>C (CACNB2)	ENSP00000499177.1:n.*1013G>C
ENST00000652391.1:c.1594G>C (CACNB2)	ENSP00000498938.1:p.Asp532His
ENST00000652478.1:c.*874G>C (CACNB2)	ENSP00000498812.1:n.*874G>C
ENST00000282343.12:c.1690G>C (CACNB2)	ENSP00000282343.8:p.Asp564His
ENST00000324631.11:c.1774G>C (CACNB2)	ENSP00000320025.7:p.Asp592His
ENST00000352115.10:c.1702G>C (CACNB2)	ENSP00000344474.6:p.Asp568His
ENST00000377315.4:c.1630G>C (CACNB2)	ENSP00000366532.4:p.Asp544His
ENST00000377319.7:c.1495G>C (CACNB2)	ENSP00000366536.3:p.Asp499His
ENST00000377328.5:c.1024G>C (CACNB2)	ENSP00000366545.1:p.Asp342His
ENST00000377329.8:c.1612G>C (CACNB2)	ENSP00000366546.4:p.Asp538His
ENST00000377331.6:c.1618G>C (CACNB2)	ENSP00000366548.2:p.Asp540His
ENST00000396576.6:c.1609G>C (CACNB2)	ENSP00000379821.2:p.Asp537His
ENST00000612134.4:c.1478G>C (CACNB2)	ENSP00000480563.1:n.1478G>C
ENST00000612743.1:c.286G>C (CACNB2)	ENSP00000478676.1:p.Asp96His
ENST00000615785.4:c.859G>C (CACNB2)	ENSP00000480260.1:p.Asp287His
ENST00000617363.4:c.1537G>C (CACNB2)	ENSP00000479756.1:p.Asp513His
NM_000724.3:c.1609G>C (CACNB2)	NP_000715.2:p.Asp537His
NM_001167945.1:c.1576G>C (CACNB2)	NP_001161417.1:p.Asp526His
NM_201570.2:c.1630G>C (CACNB2)	NP_963864.1:p.Asp544His
NM_201571.3:c.1690G>C (CACNB2)	NP_963865.2:p.Asp564His
NM_201572.3:c.1618G>C (CACNB2)	NP_963866.2:p.Asp540His
NM_201590.2:c.1612G>C (CACNB2)	NP_963884.2:p.Asp538His
NM_201593.2:c.1660G>C (CACNB2)	NP_963887.2:p.Asp554His
NM_201596.2:c.1774G>C (CACNB2)	NP_963890.2:p.Asp592His
NM_201597.2:c.1702G>C (CACNB2)	NP_963891.1:p.Asp568His
XM_005252588.2:c.1516G>C (CACNB2)	XP_005252645.1:p.Asp506His
XM_005252591.2:c.934G>C (CACNB2)	XP_005252648.1:p.Asp312His
XM_006717502.2:c.1594G>C (CACNB2)	XP_006717565.1:p.Asp532His
XM_011519659.1:c.1540G>C (CACNB2)	XP_011517961.1:p.Asp514His
XM_011519660.1:c.1495G>C (CACNB2)	XP_011517962.1:p.Asp499His
NM_001330060.1:c.1495G>C (CACNB2)	NP_001316989.1:p.Asp499His
XM_005252588.4:c.1516G>C (CACNB2)	XP_005252645.1:p.Asp506His
XM_005252591.3:c.934G>C (CACNB2)	XP_005252648.1:p.Asp312His
XM_006717502.3:c.1594G>C (CACNB2)	XP_006717565.1:p.Asp532His
XM_011519659.2:c.1540G>C (CACNB2)	XP_011517961.1:p.Asp514His
XM_017016625.1:c.934G>C (CACNB2)	XP_016872114.1:p.Asp312His
XR_001747060.1:n.2423+2554C>G (NSUN6)
XR_001747198.1:n.1899G>C (CACNB2)
NM_000724.4:c.1609G>C (CACNB2)	NP_000715.2:p.Asp537His
NM_001167945.2:c.1576G>C (CACNB2)	NP_001161417.1:p.Asp526His
NM_001330060.2:c.1495G>C (CACNB2)	NP_001316989.1:p.Asp499His
NM_201570.3:c.1630G>C (CACNB2)	NP_963864.1:p.Asp544His
NM_201571.4:c.1690G>C (CACNB2)	NP_963865.2:p.Asp564His
NM_201572.4:c.1618G>C (CACNB2)	NP_963866.2:p.Asp540His
NM_201590.3:c.1612G>C (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asp538His
NM_201593.3:c.1660G>C (CACNB2)	NP_963887.2:p.Asp554His
NM_201596.3:c.1774G>C (CACNB2) MANE Select	NP_963890.2:p.Asp592His
NM_201597.3:c.1702G>C (CACNB2)	NP_963891.1:p.Asp568His