Canonical Allele Identifier: CA376072782

Gene: CACNB2 NSUN6

Linked Data

• COSMIC: COSM916920 ; COSM916921 ; COSM1584887
• MyVariant Identifiers: chr10:g.18828572C>A (hg19) ; chr10:g.18539643C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539643C>A , CM000672.2:g.18539643C>A	GRCh38
NC_000010.10:g.18828572C>A , CM000672.1:g.18828572C>A	GRCh37
NC_000010.9:g.18868578C>A	NCBI36
NG_016195.1:g.403967C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1758C>A (CACNB2)	ENSP00000366532.4:p.Tyr586Ter
ENST00000377319.9:c.1623C>A (CACNB2)	ENSP00000366536.3:p.Tyr541Ter
ENST00000645287.2:c.1746C>A (CACNB2)	ENSP00000496203.1:p.Tyr582Ter
ENST00000282343.13:c.1818C>A (CACNB2)	ENSP00000282343.8:p.Tyr606Ter
ENST00000324631.13:c.1902C>A (CACNB2) MANE Select	ENSP00000320025.8:p.Tyr634Ter
ENST00000377315.5:c.1758C>A (CACNB2)	ENSP00000366532.4:p.Tyr586Ter
ENST00000377319.8:c.1623C>A (CACNB2)	ENSP00000366536.3:p.Tyr541Ter
ENST00000377329.10:c.1740C>A (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Tyr580Ter
ENST00000377331.8:c.1527C>A (CACNB2)	ENSP00000366548.4:p.Tyr509Ter
ENST00000643096.2:c.1704C>A (CACNB2)	ENSP00000494209.2:p.Tyr568Ter
ENST00000645287.1:c.1746C>A (CACNB2)	ENSP00000496203.1:p.Tyr582Ter
ENST00000647168.2:c.*1043C>A (CACNB2)	ENSP00000495854.2:n.*1043C>A
ENST00000650685.1:c.1644C>A (CACNB2)	ENSP00000498460.1:p.Tyr548Ter
ENST00000651330.1:c.*1176C>A (CACNB2)	ENSP00000498457.1:n.*1176C>A
ENST00000651468.1:c.1459C>A (CACNB2)	ENSP00000498352.1:n.1459C>A
ENST00000651928.1:c.*1141C>A (CACNB2)	ENSP00000499177.1:n.*1141C>A
ENST00000652391.1:c.1722C>A (CACNB2)	ENSP00000498938.1:p.Tyr574Ter
ENST00000652478.1:c.*1002C>A (CACNB2)	ENSP00000498812.1:n.*1002C>A
ENST00000282343.12:c.1818C>A (CACNB2)	ENSP00000282343.8:p.Tyr606Ter
ENST00000324631.11:c.1902C>A (CACNB2)	ENSP00000320025.7:p.Tyr634Ter
ENST00000352115.10:c.1830C>A (CACNB2)	ENSP00000344474.6:p.Tyr610Ter
ENST00000377315.4:c.1758C>A (CACNB2)	ENSP00000366532.4:p.Tyr586Ter
ENST00000377319.7:c.1623C>A (CACNB2)	ENSP00000366536.3:p.Tyr541Ter
ENST00000377328.5:c.1152C>A (CACNB2)	ENSP00000366545.1:p.Tyr384Ter
ENST00000377329.8:c.1740C>A (CACNB2)	ENSP00000366546.4:p.Tyr580Ter
ENST00000377331.6:c.1746C>A (CACNB2)	ENSP00000366548.2:p.Tyr582Ter
ENST00000396576.6:c.1737C>A (CACNB2)	ENSP00000379821.2:p.Tyr579Ter
ENST00000612134.4:c.1606C>A (CACNB2)	ENSP00000480563.1:n.1606C>A
ENST00000612743.1:c.414C>A (CACNB2)	ENSP00000478676.1:p.Tyr138Ter
ENST00000615785.4:c.987C>A (CACNB2)	ENSP00000480260.1:p.Tyr329Ter
ENST00000617363.4:c.1665C>A (CACNB2)	ENSP00000479756.1:p.Tyr555Ter
NM_000724.3:c.1737C>A (CACNB2)	NP_000715.2:p.Tyr579Ter
NM_001167945.1:c.1704C>A (CACNB2)	NP_001161417.1:p.Tyr568Ter
NM_201570.2:c.1758C>A (CACNB2)	NP_963864.1:p.Tyr586Ter
NM_201571.3:c.1818C>A (CACNB2)	NP_963865.2:p.Tyr606Ter
NM_201572.3:c.1746C>A (CACNB2)	NP_963866.2:p.Tyr582Ter
NM_201590.2:c.1740C>A (CACNB2)	NP_963884.2:p.Tyr580Ter
NM_201593.2:c.1788C>A (CACNB2)	NP_963887.2:p.Tyr596Ter
NM_201596.2:c.1902C>A (CACNB2)	NP_963890.2:p.Tyr634Ter
NM_201597.2:c.1830C>A (CACNB2)	NP_963891.1:p.Tyr610Ter
XM_005252588.2:c.1644C>A (CACNB2)	XP_005252645.1:p.Tyr548Ter
XM_005252591.2:c.1062C>A (CACNB2)	XP_005252648.1:p.Tyr354Ter
XM_006717502.2:c.1722C>A (CACNB2)	XP_006717565.1:p.Tyr574Ter
XM_011519659.1:c.1668C>A (CACNB2)	XP_011517961.1:p.Tyr556Ter
XM_011519660.1:c.1623C>A (CACNB2)	XP_011517962.1:p.Tyr541Ter
NM_001330060.1:c.1623C>A (CACNB2)	NP_001316989.1:p.Tyr541Ter
XM_005252588.4:c.1644C>A (CACNB2)	XP_005252645.1:p.Tyr548Ter
XM_005252591.3:c.1062C>A (CACNB2)	XP_005252648.1:p.Tyr354Ter
XM_006717502.3:c.1722C>A (CACNB2)	XP_006717565.1:p.Tyr574Ter
XM_011519659.2:c.1668C>A (CACNB2)	XP_011517961.1:p.Tyr556Ter
XM_017016625.1:c.1062C>A (CACNB2)	XP_016872114.1:p.Tyr354Ter
XR_001747060.1:n.2423+2426G>T (NSUN6)
XR_001747198.1:n.2027C>A (CACNB2)
NM_000724.4:c.1737C>A (CACNB2)	NP_000715.2:p.Tyr579Ter
NM_001167945.2:c.1704C>A (CACNB2)	NP_001161417.1:p.Tyr568Ter
NM_001330060.2:c.1623C>A (CACNB2)	NP_001316989.1:p.Tyr541Ter
NM_201570.3:c.1758C>A (CACNB2)	NP_963864.1:p.Tyr586Ter
NM_201571.4:c.1818C>A (CACNB2)	NP_963865.2:p.Tyr606Ter
NM_201572.4:c.1746C>A (CACNB2)	NP_963866.2:p.Tyr582Ter
NM_201590.3:c.1740C>A (CACNB2) MANE Plus Clinical	NP_963884.2:p.Tyr580Ter
NM_201593.3:c.1788C>A (CACNB2)	NP_963887.2:p.Tyr596Ter
NM_201596.3:c.1902C>A (CACNB2) MANE Select	NP_963890.2:p.Tyr634Ter
NM_201597.3:c.1830C>A (CACNB2)	NP_963891.1:p.Tyr610Ter