Canonical Allele Identifier: CA376071770

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828363T>A (hg19) ; chr10:g.18539434T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539434T>A , CM000672.2:g.18539434T>A	GRCh38
NC_000010.10:g.18828363T>A , CM000672.1:g.18828363T>A	GRCh37
NC_000010.9:g.18868369T>A	NCBI36
NG_016195.1:g.403758T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1549T>A (CACNB2)	ENSP00000366532.4:p.Ser517Thr
ENST00000377319.9:c.1414T>A (CACNB2)	ENSP00000366536.3:p.Ser472Thr
ENST00000645287.2:c.1537T>A (CACNB2)	ENSP00000496203.1:p.Ser513Thr
ENST00000282343.13:c.1609T>A (CACNB2)	ENSP00000282343.8:p.Ser537Thr
ENST00000324631.13:c.1693T>A (CACNB2) MANE Select	ENSP00000320025.8:p.Ser565Thr
ENST00000377315.5:c.1549T>A (CACNB2)	ENSP00000366532.4:p.Ser517Thr
ENST00000377319.8:c.1414T>A (CACNB2)	ENSP00000366536.3:p.Ser472Thr
ENST00000377329.10:c.1531T>A (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Ser511Thr
ENST00000377331.8:c.1318T>A (CACNB2)	ENSP00000366548.4:p.Ser440Thr
ENST00000643096.2:c.1495T>A (CACNB2)	ENSP00000494209.2:p.Ser499Thr
ENST00000645287.1:c.1537T>A (CACNB2)	ENSP00000496203.1:p.Ser513Thr
ENST00000647168.2:c.*834T>A (CACNB2)	ENSP00000495854.2:n.*834T>A
ENST00000650685.1:c.1435T>A (CACNB2)	ENSP00000498460.1:p.Ser479Thr
ENST00000651330.1:c.*967T>A (CACNB2)	ENSP00000498457.1:n.*967T>A
ENST00000651468.1:c.1250T>A (CACNB2)	ENSP00000498352.1:n.1250T>A
ENST00000651928.1:c.*932T>A (CACNB2)	ENSP00000499177.1:n.*932T>A
ENST00000652391.1:c.1513T>A (CACNB2)	ENSP00000498938.1:p.Ser505Thr
ENST00000652478.1:c.*793T>A (CACNB2)	ENSP00000498812.1:n.*793T>A
ENST00000282343.12:c.1609T>A (CACNB2)	ENSP00000282343.8:p.Ser537Thr
ENST00000324631.11:c.1693T>A (CACNB2)	ENSP00000320025.7:p.Ser565Thr
ENST00000352115.10:c.1621T>A (CACNB2)	ENSP00000344474.6:p.Ser541Thr
ENST00000377315.4:c.1549T>A (CACNB2)	ENSP00000366532.4:p.Ser517Thr
ENST00000377319.7:c.1414T>A (CACNB2)	ENSP00000366536.3:p.Ser472Thr
ENST00000377328.5:c.943T>A (CACNB2)	ENSP00000366545.1:p.Ser315Thr
ENST00000377329.8:c.1531T>A (CACNB2)	ENSP00000366546.4:p.Ser511Thr
ENST00000377331.6:c.1537T>A (CACNB2)	ENSP00000366548.2:p.Ser513Thr
ENST00000396576.6:c.1528T>A (CACNB2)	ENSP00000379821.2:p.Ser510Thr
ENST00000612134.4:c.1397T>A (CACNB2)	ENSP00000480563.1:n.1397T>A
ENST00000612743.1:c.205T>A (CACNB2)	ENSP00000478676.1:p.Ser69Thr
ENST00000615785.4:c.778T>A (CACNB2)	ENSP00000480260.1:p.Ser260Thr
ENST00000617363.4:c.1456T>A (CACNB2)	ENSP00000479756.1:p.Ser486Thr
NM_000724.3:c.1528T>A (CACNB2)	NP_000715.2:p.Ser510Thr
NM_001167945.1:c.1495T>A (CACNB2)	NP_001161417.1:p.Ser499Thr
NM_201570.2:c.1549T>A (CACNB2)	NP_963864.1:p.Ser517Thr
NM_201571.3:c.1609T>A (CACNB2)	NP_963865.2:p.Ser537Thr
NM_201572.3:c.1537T>A (CACNB2)	NP_963866.2:p.Ser513Thr
NM_201590.2:c.1531T>A (CACNB2)	NP_963884.2:p.Ser511Thr
NM_201593.2:c.1579T>A (CACNB2)	NP_963887.2:p.Ser527Thr
NM_201596.2:c.1693T>A (CACNB2)	NP_963890.2:p.Ser565Thr
NM_201597.2:c.1621T>A (CACNB2)	NP_963891.1:p.Ser541Thr
XM_005252588.2:c.1435T>A (CACNB2)	XP_005252645.1:p.Ser479Thr
XM_005252591.2:c.853T>A (CACNB2)	XP_005252648.1:p.Ser285Thr
XM_006717502.2:c.1513T>A (CACNB2)	XP_006717565.1:p.Ser505Thr
XM_011519659.1:c.1459T>A (CACNB2)	XP_011517961.1:p.Ser487Thr
XM_011519660.1:c.1414T>A (CACNB2)	XP_011517962.1:p.Ser472Thr
NM_001330060.1:c.1414T>A (CACNB2)	NP_001316989.1:p.Ser472Thr
XM_005252588.4:c.1435T>A (CACNB2)	XP_005252645.1:p.Ser479Thr
XM_005252591.3:c.853T>A (CACNB2)	XP_005252648.1:p.Ser285Thr
XM_006717502.3:c.1513T>A (CACNB2)	XP_006717565.1:p.Ser505Thr
XM_011519659.2:c.1459T>A (CACNB2)	XP_011517961.1:p.Ser487Thr
XM_017016625.1:c.853T>A (CACNB2)	XP_016872114.1:p.Ser285Thr
XR_001747060.1:n.2423+2635A>T (NSUN6)
XR_001747198.1:n.1818T>A (CACNB2)
NM_000724.4:c.1528T>A (CACNB2)	NP_000715.2:p.Ser510Thr
NM_001167945.2:c.1495T>A (CACNB2)	NP_001161417.1:p.Ser499Thr
NM_001330060.2:c.1414T>A (CACNB2)	NP_001316989.1:p.Ser472Thr
NM_201570.3:c.1549T>A (CACNB2)	NP_963864.1:p.Ser517Thr
NM_201571.4:c.1609T>A (CACNB2)	NP_963865.2:p.Ser537Thr
NM_201572.4:c.1537T>A (CACNB2)	NP_963866.2:p.Ser513Thr
NM_201590.3:c.1531T>A (CACNB2) MANE Plus Clinical	NP_963884.2:p.Ser511Thr
NM_201593.3:c.1579T>A (CACNB2)	NP_963887.2:p.Ser527Thr
NM_201596.3:c.1693T>A (CACNB2) MANE Select	NP_963890.2:p.Ser565Thr
NM_201597.3:c.1621T>A (CACNB2)	NP_963891.1:p.Ser541Thr