Canonical Allele Identifier: CA376072229

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs1247452731
• gnomAD v2: 10-18828457-G-A
• gnomAD v4: 10-18539528-G-A
• MyVariant Identifiers: chr10:g.18828457G>A (hg19) ; chr10:g.18539528G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539528G>A , CM000672.2:g.18539528G>A	GRCh38
NC_000010.10:g.18828457G>A , CM000672.1:g.18828457G>A	GRCh37
NC_000010.9:g.18868463G>A	NCBI36
NG_016195.1:g.403852G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1643G>A (CACNB2)	ENSP00000366532.4:p.Gly548Glu
ENST00000377319.9:c.1508G>A (CACNB2)	ENSP00000366536.3:p.Gly503Glu
ENST00000645287.2:c.1631G>A (CACNB2)	ENSP00000496203.1:p.Gly544Glu
ENST00000282343.13:c.1703G>A (CACNB2)	ENSP00000282343.8:p.Gly568Glu
ENST00000324631.13:c.1787G>A (CACNB2) MANE Select	ENSP00000320025.8:p.Gly596Glu
ENST00000377315.5:c.1643G>A (CACNB2)	ENSP00000366532.4:p.Gly548Glu
ENST00000377319.8:c.1508G>A (CACNB2)	ENSP00000366536.3:p.Gly503Glu
ENST00000377329.10:c.1625G>A (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Gly542Glu
ENST00000377331.8:c.1412G>A (CACNB2)	ENSP00000366548.4:p.Gly471Glu
ENST00000643096.2:c.1589G>A (CACNB2)	ENSP00000494209.2:p.Gly530Glu
ENST00000645287.1:c.1631G>A (CACNB2)	ENSP00000496203.1:p.Gly544Glu
ENST00000647168.2:c.*928G>A (CACNB2)	ENSP00000495854.2:n.*928G>A
ENST00000650685.1:c.1529G>A (CACNB2)	ENSP00000498460.1:p.Gly510Glu
ENST00000651330.1:c.*1061G>A (CACNB2)	ENSP00000498457.1:n.*1061G>A
ENST00000651468.1:c.1344G>A (CACNB2)	ENSP00000498352.1:n.1344G>A
ENST00000651928.1:c.*1026G>A (CACNB2)	ENSP00000499177.1:n.*1026G>A
ENST00000652391.1:c.1607G>A (CACNB2)	ENSP00000498938.1:p.Gly536Glu
ENST00000652478.1:c.*887G>A (CACNB2)	ENSP00000498812.1:n.*887G>A
ENST00000282343.12:c.1703G>A (CACNB2)	ENSP00000282343.8:p.Gly568Glu
ENST00000324631.11:c.1787G>A (CACNB2)	ENSP00000320025.7:p.Gly596Glu
ENST00000352115.10:c.1715G>A (CACNB2)	ENSP00000344474.6:p.Gly572Glu
ENST00000377315.4:c.1643G>A (CACNB2)	ENSP00000366532.4:p.Gly548Glu
ENST00000377319.7:c.1508G>A (CACNB2)	ENSP00000366536.3:p.Gly503Glu
ENST00000377328.5:c.1037G>A (CACNB2)	ENSP00000366545.1:p.Gly346Glu
ENST00000377329.8:c.1625G>A (CACNB2)	ENSP00000366546.4:p.Gly542Glu
ENST00000377331.6:c.1631G>A (CACNB2)	ENSP00000366548.2:p.Gly544Glu
ENST00000396576.6:c.1622G>A (CACNB2)	ENSP00000379821.2:p.Gly541Glu
ENST00000612134.4:c.1491G>A (CACNB2)	ENSP00000480563.1:n.1491G>A
ENST00000612743.1:c.299G>A (CACNB2)	ENSP00000478676.1:p.Gly100Glu
ENST00000615785.4:c.872G>A (CACNB2)	ENSP00000480260.1:p.Gly291Glu
ENST00000617363.4:c.1550G>A (CACNB2)	ENSP00000479756.1:p.Gly517Glu
NM_000724.3:c.1622G>A (CACNB2)	NP_000715.2:p.Gly541Glu
NM_001167945.1:c.1589G>A (CACNB2)	NP_001161417.1:p.Gly530Glu
NM_201570.2:c.1643G>A (CACNB2)	NP_963864.1:p.Gly548Glu
NM_201571.3:c.1703G>A (CACNB2)	NP_963865.2:p.Gly568Glu
NM_201572.3:c.1631G>A (CACNB2)	NP_963866.2:p.Gly544Glu
NM_201590.2:c.1625G>A (CACNB2)	NP_963884.2:p.Gly542Glu
NM_201593.2:c.1673G>A (CACNB2)	NP_963887.2:p.Gly558Glu
NM_201596.2:c.1787G>A (CACNB2)	NP_963890.2:p.Gly596Glu
NM_201597.2:c.1715G>A (CACNB2)	NP_963891.1:p.Gly572Glu
XM_005252588.2:c.1529G>A (CACNB2)	XP_005252645.1:p.Gly510Glu
XM_005252591.2:c.947G>A (CACNB2)	XP_005252648.1:p.Gly316Glu
XM_006717502.2:c.1607G>A (CACNB2)	XP_006717565.1:p.Gly536Glu
XM_011519659.1:c.1553G>A (CACNB2)	XP_011517961.1:p.Gly518Glu
XM_011519660.1:c.1508G>A (CACNB2)	XP_011517962.1:p.Gly503Glu
NM_001330060.1:c.1508G>A (CACNB2)	NP_001316989.1:p.Gly503Glu
XM_005252588.4:c.1529G>A (CACNB2)	XP_005252645.1:p.Gly510Glu
XM_005252591.3:c.947G>A (CACNB2)	XP_005252648.1:p.Gly316Glu
XM_006717502.3:c.1607G>A (CACNB2)	XP_006717565.1:p.Gly536Glu
XM_011519659.2:c.1553G>A (CACNB2)	XP_011517961.1:p.Gly518Glu
XM_017016625.1:c.947G>A (CACNB2)	XP_016872114.1:p.Gly316Glu
XR_001747060.1:n.2423+2541C>T (NSUN6)
XR_001747198.1:n.1912G>A (CACNB2)
NM_000724.4:c.1622G>A (CACNB2)	NP_000715.2:p.Gly541Glu
NM_001167945.2:c.1589G>A (CACNB2)	NP_001161417.1:p.Gly530Glu
NM_001330060.2:c.1508G>A (CACNB2)	NP_001316989.1:p.Gly503Glu
NM_201570.3:c.1643G>A (CACNB2)	NP_963864.1:p.Gly548Glu
NM_201571.4:c.1703G>A (CACNB2)	NP_963865.2:p.Gly568Glu
NM_201572.4:c.1631G>A (CACNB2)	NP_963866.2:p.Gly544Glu
NM_201590.3:c.1625G>A (CACNB2) MANE Plus Clinical	NP_963884.2:p.Gly542Glu
NM_201593.3:c.1673G>A (CACNB2)	NP_963887.2:p.Gly558Glu
NM_201596.3:c.1787G>A (CACNB2) MANE Select	NP_963890.2:p.Gly596Glu
NM_201597.3:c.1715G>A (CACNB2)	NP_963891.1:p.Gly572Glu