Canonical Allele Identifier: CA376071835

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs1554842926
• MyVariant Identifiers: chr10:g.18828375G>T (hg19) ; chr10:g.18539446G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539446G>T , CM000672.2:g.18539446G>T	GRCh38
NC_000010.10:g.18828375G>T , CM000672.1:g.18828375G>T	GRCh37
NC_000010.9:g.18868381G>T	NCBI36
NG_016195.1:g.403770G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1561G>T (CACNB2)	ENSP00000366532.4:p.Glu521Ter
ENST00000377319.9:c.1426G>T (CACNB2)	ENSP00000366536.3:p.Glu476Ter
ENST00000645287.2:c.1549G>T (CACNB2)	ENSP00000496203.1:p.Glu517Ter
ENST00000282343.13:c.1621G>T (CACNB2)	ENSP00000282343.8:p.Glu541Ter
ENST00000324631.13:c.1705G>T (CACNB2) MANE Select	ENSP00000320025.8:p.Glu569Ter
ENST00000377315.5:c.1561G>T (CACNB2)	ENSP00000366532.4:p.Glu521Ter
ENST00000377319.8:c.1426G>T (CACNB2)	ENSP00000366536.3:p.Glu476Ter
ENST00000377329.10:c.1543G>T (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Glu515Ter
ENST00000377331.8:c.1330G>T (CACNB2)	ENSP00000366548.4:p.Glu444Ter
ENST00000643096.2:c.1507G>T (CACNB2)	ENSP00000494209.2:p.Glu503Ter
ENST00000645287.1:c.1549G>T (CACNB2)	ENSP00000496203.1:p.Glu517Ter
ENST00000647168.2:c.*846G>T (CACNB2)	ENSP00000495854.2:n.*846G>T
ENST00000650685.1:c.1447G>T (CACNB2)	ENSP00000498460.1:p.Glu483Ter
ENST00000651330.1:c.*979G>T (CACNB2)	ENSP00000498457.1:n.*979G>T
ENST00000651468.1:c.1262G>T (CACNB2)	ENSP00000498352.1:n.1262G>T
ENST00000651928.1:c.*944G>T (CACNB2)	ENSP00000499177.1:n.*944G>T
ENST00000652391.1:c.1525G>T (CACNB2)	ENSP00000498938.1:p.Glu509Ter
ENST00000652478.1:c.*805G>T (CACNB2)	ENSP00000498812.1:n.*805G>T
ENST00000282343.12:c.1621G>T (CACNB2)	ENSP00000282343.8:p.Glu541Ter
ENST00000324631.11:c.1705G>T (CACNB2)	ENSP00000320025.7:p.Glu569Ter
ENST00000352115.10:c.1633G>T (CACNB2)	ENSP00000344474.6:p.Glu545Ter
ENST00000377315.4:c.1561G>T (CACNB2)	ENSP00000366532.4:p.Glu521Ter
ENST00000377319.7:c.1426G>T (CACNB2)	ENSP00000366536.3:p.Glu476Ter
ENST00000377328.5:c.955G>T (CACNB2)	ENSP00000366545.1:p.Glu319Ter
ENST00000377329.8:c.1543G>T (CACNB2)	ENSP00000366546.4:p.Glu515Ter
ENST00000377331.6:c.1549G>T (CACNB2)	ENSP00000366548.2:p.Glu517Ter
ENST00000396576.6:c.1540G>T (CACNB2)	ENSP00000379821.2:p.Glu514Ter
ENST00000612134.4:c.1409G>T (CACNB2)	ENSP00000480563.1:n.1409G>T
ENST00000612743.1:c.217G>T (CACNB2)	ENSP00000478676.1:p.Glu73Ter
ENST00000615785.4:c.790G>T (CACNB2)	ENSP00000480260.1:p.Glu264Ter
ENST00000617363.4:c.1468G>T (CACNB2)	ENSP00000479756.1:p.Glu490Ter
NM_000724.3:c.1540G>T (CACNB2)	NP_000715.2:p.Glu514Ter
NM_001167945.1:c.1507G>T (CACNB2)	NP_001161417.1:p.Glu503Ter
NM_201570.2:c.1561G>T (CACNB2)	NP_963864.1:p.Glu521Ter
NM_201571.3:c.1621G>T (CACNB2)	NP_963865.2:p.Glu541Ter
NM_201572.3:c.1549G>T (CACNB2)	NP_963866.2:p.Glu517Ter
NM_201590.2:c.1543G>T (CACNB2)	NP_963884.2:p.Glu515Ter
NM_201593.2:c.1591G>T (CACNB2)	NP_963887.2:p.Glu531Ter
NM_201596.2:c.1705G>T (CACNB2)	NP_963890.2:p.Glu569Ter
NM_201597.2:c.1633G>T (CACNB2)	NP_963891.1:p.Glu545Ter
XM_005252588.2:c.1447G>T (CACNB2)	XP_005252645.1:p.Glu483Ter
XM_005252591.2:c.865G>T (CACNB2)	XP_005252648.1:p.Glu289Ter
XM_006717502.2:c.1525G>T (CACNB2)	XP_006717565.1:p.Glu509Ter
XM_011519659.1:c.1471G>T (CACNB2)	XP_011517961.1:p.Glu491Ter
XM_011519660.1:c.1426G>T (CACNB2)	XP_011517962.1:p.Glu476Ter
NM_001330060.1:c.1426G>T (CACNB2)	NP_001316989.1:p.Glu476Ter
XM_005252588.4:c.1447G>T (CACNB2)	XP_005252645.1:p.Glu483Ter
XM_005252591.3:c.865G>T (CACNB2)	XP_005252648.1:p.Glu289Ter
XM_006717502.3:c.1525G>T (CACNB2)	XP_006717565.1:p.Glu509Ter
XM_011519659.2:c.1471G>T (CACNB2)	XP_011517961.1:p.Glu491Ter
XM_017016625.1:c.865G>T (CACNB2)	XP_016872114.1:p.Glu289Ter
XR_001747060.1:n.2423+2623C>A (NSUN6)
XR_001747198.1:n.1830G>T (CACNB2)
NM_000724.4:c.1540G>T (CACNB2)	NP_000715.2:p.Glu514Ter
NM_001167945.2:c.1507G>T (CACNB2)	NP_001161417.1:p.Glu503Ter
NM_001330060.2:c.1426G>T (CACNB2)	NP_001316989.1:p.Glu476Ter
NM_201570.3:c.1561G>T (CACNB2)	NP_963864.1:p.Glu521Ter
NM_201571.4:c.1621G>T (CACNB2)	NP_963865.2:p.Glu541Ter
NM_201572.4:c.1549G>T (CACNB2)	NP_963866.2:p.Glu517Ter
NM_201590.3:c.1543G>T (CACNB2) MANE Plus Clinical	NP_963884.2:p.Glu515Ter
NM_201593.3:c.1591G>T (CACNB2)	NP_963887.2:p.Glu531Ter
NM_201596.3:c.1705G>T (CACNB2) MANE Select	NP_963890.2:p.Glu569Ter
NM_201597.3:c.1633G>T (CACNB2)	NP_963891.1:p.Glu545Ter