Canonical Allele Identifier: CA376071883

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828387G>A (hg19) ; chr10:g.18539458G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539458G>A , CM000672.2:g.18539458G>A	GRCh38
NC_000010.10:g.18828387G>A , CM000672.1:g.18828387G>A	GRCh37
NC_000010.9:g.18868393G>A	NCBI36
NG_016195.1:g.403782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1573G>A (CACNB2)	ENSP00000366532.4:p.Asp525Asn
ENST00000377319.9:c.1438G>A (CACNB2)	ENSP00000366536.3:p.Asp480Asn
ENST00000645287.2:c.1561G>A (CACNB2)	ENSP00000496203.1:p.Asp521Asn
ENST00000282343.13:c.1633G>A (CACNB2)	ENSP00000282343.8:p.Asp545Asn
ENST00000324631.13:c.1717G>A (CACNB2) MANE Select	ENSP00000320025.8:p.Asp573Asn
ENST00000377315.5:c.1573G>A (CACNB2)	ENSP00000366532.4:p.Asp525Asn
ENST00000377319.8:c.1438G>A (CACNB2)	ENSP00000366536.3:p.Asp480Asn
ENST00000377329.10:c.1555G>A (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asp519Asn
ENST00000377331.8:c.1342G>A (CACNB2)	ENSP00000366548.4:p.Asp448Asn
ENST00000643096.2:c.1519G>A (CACNB2)	ENSP00000494209.2:p.Asp507Asn
ENST00000645287.1:c.1561G>A (CACNB2)	ENSP00000496203.1:p.Asp521Asn
ENST00000647168.2:c.*858G>A (CACNB2)	ENSP00000495854.2:n.*858G>A
ENST00000650685.1:c.1459G>A (CACNB2)	ENSP00000498460.1:p.Asp487Asn
ENST00000651330.1:c.*991G>A (CACNB2)	ENSP00000498457.1:n.*991G>A
ENST00000651468.1:c.1274G>A (CACNB2)	ENSP00000498352.1:n.1274G>A
ENST00000651928.1:c.*956G>A (CACNB2)	ENSP00000499177.1:n.*956G>A
ENST00000652391.1:c.1537G>A (CACNB2)	ENSP00000498938.1:p.Asp513Asn
ENST00000652478.1:c.*817G>A (CACNB2)	ENSP00000498812.1:n.*817G>A
ENST00000282343.12:c.1633G>A (CACNB2)	ENSP00000282343.8:p.Asp545Asn
ENST00000324631.11:c.1717G>A (CACNB2)	ENSP00000320025.7:p.Asp573Asn
ENST00000352115.10:c.1645G>A (CACNB2)	ENSP00000344474.6:p.Asp549Asn
ENST00000377315.4:c.1573G>A (CACNB2)	ENSP00000366532.4:p.Asp525Asn
ENST00000377319.7:c.1438G>A (CACNB2)	ENSP00000366536.3:p.Asp480Asn
ENST00000377328.5:c.967G>A (CACNB2)	ENSP00000366545.1:p.Asp323Asn
ENST00000377329.8:c.1555G>A (CACNB2)	ENSP00000366546.4:p.Asp519Asn
ENST00000377331.6:c.1561G>A (CACNB2)	ENSP00000366548.2:p.Asp521Asn
ENST00000396576.6:c.1552G>A (CACNB2)	ENSP00000379821.2:p.Asp518Asn
ENST00000612134.4:c.1421G>A (CACNB2)	ENSP00000480563.1:n.1421G>A
ENST00000612743.1:c.229G>A (CACNB2)	ENSP00000478676.1:p.Asp77Asn
ENST00000615785.4:c.802G>A (CACNB2)	ENSP00000480260.1:p.Asp268Asn
ENST00000617363.4:c.1480G>A (CACNB2)	ENSP00000479756.1:p.Asp494Asn
NM_000724.3:c.1552G>A (CACNB2)	NP_000715.2:p.Asp518Asn
NM_001167945.1:c.1519G>A (CACNB2)	NP_001161417.1:p.Asp507Asn
NM_201570.2:c.1573G>A (CACNB2)	NP_963864.1:p.Asp525Asn
NM_201571.3:c.1633G>A (CACNB2)	NP_963865.2:p.Asp545Asn
NM_201572.3:c.1561G>A (CACNB2)	NP_963866.2:p.Asp521Asn
NM_201590.2:c.1555G>A (CACNB2)	NP_963884.2:p.Asp519Asn
NM_201593.2:c.1603G>A (CACNB2)	NP_963887.2:p.Asp535Asn
NM_201596.2:c.1717G>A (CACNB2)	NP_963890.2:p.Asp573Asn
NM_201597.2:c.1645G>A (CACNB2)	NP_963891.1:p.Asp549Asn
XM_005252588.2:c.1459G>A (CACNB2)	XP_005252645.1:p.Asp487Asn
XM_005252591.2:c.877G>A (CACNB2)	XP_005252648.1:p.Asp293Asn
XM_006717502.2:c.1537G>A (CACNB2)	XP_006717565.1:p.Asp513Asn
XM_011519659.1:c.1483G>A (CACNB2)	XP_011517961.1:p.Asp495Asn
XM_011519660.1:c.1438G>A (CACNB2)	XP_011517962.1:p.Asp480Asn
NM_001330060.1:c.1438G>A (CACNB2)	NP_001316989.1:p.Asp480Asn
XM_005252588.4:c.1459G>A (CACNB2)	XP_005252645.1:p.Asp487Asn
XM_005252591.3:c.877G>A (CACNB2)	XP_005252648.1:p.Asp293Asn
XM_006717502.3:c.1537G>A (CACNB2)	XP_006717565.1:p.Asp513Asn
XM_011519659.2:c.1483G>A (CACNB2)	XP_011517961.1:p.Asp495Asn
XM_017016625.1:c.877G>A (CACNB2)	XP_016872114.1:p.Asp293Asn
XR_001747060.1:n.2423+2611C>T (NSUN6)
XR_001747198.1:n.1842G>A (CACNB2)
NM_000724.4:c.1552G>A (CACNB2)	NP_000715.2:p.Asp518Asn
NM_001167945.2:c.1519G>A (CACNB2)	NP_001161417.1:p.Asp507Asn
NM_001330060.2:c.1438G>A (CACNB2)	NP_001316989.1:p.Asp480Asn
NM_201570.3:c.1573G>A (CACNB2)	NP_963864.1:p.Asp525Asn
NM_201571.4:c.1633G>A (CACNB2)	NP_963865.2:p.Asp545Asn
NM_201572.4:c.1561G>A (CACNB2)	NP_963866.2:p.Asp521Asn
NM_201590.3:c.1555G>A (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asp519Asn
NM_201593.3:c.1603G>A (CACNB2)	NP_963887.2:p.Asp535Asn
NM_201596.3:c.1717G>A (CACNB2) MANE Select	NP_963890.2:p.Asp573Asn
NM_201597.3:c.1645G>A (CACNB2)	NP_963891.1:p.Asp549Asn