Canonical Allele Identifier: CA376072730

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828546A>T (hg19) ; chr10:g.18539617A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539617A>T , CM000672.2:g.18539617A>T	GRCh38
NC_000010.10:g.18828546A>T , CM000672.1:g.18828546A>T	GRCh37
NC_000010.9:g.18868552A>T	NCBI36
NG_016195.1:g.403941A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1732A>T (CACNB2)	ENSP00000366532.4:p.Ser578Cys
ENST00000377319.9:c.1597A>T (CACNB2)	ENSP00000366536.3:p.Ser533Cys
ENST00000645287.2:c.1720A>T (CACNB2)	ENSP00000496203.1:p.Ser574Cys
ENST00000282343.13:c.1792A>T (CACNB2)	ENSP00000282343.8:p.Ser598Cys
ENST00000324631.13:c.1876A>T (CACNB2) MANE Select	ENSP00000320025.8:p.Ser626Cys
ENST00000377315.5:c.1732A>T (CACNB2)	ENSP00000366532.4:p.Ser578Cys
ENST00000377319.8:c.1597A>T (CACNB2)	ENSP00000366536.3:p.Ser533Cys
ENST00000377329.10:c.1714A>T (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Ser572Cys
ENST00000377331.8:c.1501A>T (CACNB2)	ENSP00000366548.4:p.Ser501Cys
ENST00000643096.2:c.1678A>T (CACNB2)	ENSP00000494209.2:p.Ser560Cys
ENST00000645287.1:c.1720A>T (CACNB2)	ENSP00000496203.1:p.Ser574Cys
ENST00000647168.2:c.*1017A>T (CACNB2)	ENSP00000495854.2:n.*1017A>T
ENST00000650685.1:c.1618A>T (CACNB2)	ENSP00000498460.1:p.Ser540Cys
ENST00000651330.1:c.*1150A>T (CACNB2)	ENSP00000498457.1:n.*1150A>T
ENST00000651468.1:c.1433A>T (CACNB2)	ENSP00000498352.1:n.1433A>T
ENST00000651928.1:c.*1115A>T (CACNB2)	ENSP00000499177.1:n.*1115A>T
ENST00000652391.1:c.1696A>T (CACNB2)	ENSP00000498938.1:p.Ser566Cys
ENST00000652478.1:c.*976A>T (CACNB2)	ENSP00000498812.1:n.*976A>T
ENST00000282343.12:c.1792A>T (CACNB2)	ENSP00000282343.8:p.Ser598Cys
ENST00000324631.11:c.1876A>T (CACNB2)	ENSP00000320025.7:p.Ser626Cys
ENST00000352115.10:c.1804A>T (CACNB2)	ENSP00000344474.6:p.Ser602Cys
ENST00000377315.4:c.1732A>T (CACNB2)	ENSP00000366532.4:p.Ser578Cys
ENST00000377319.7:c.1597A>T (CACNB2)	ENSP00000366536.3:p.Ser533Cys
ENST00000377328.5:c.1126A>T (CACNB2)	ENSP00000366545.1:p.Ser376Cys
ENST00000377329.8:c.1714A>T (CACNB2)	ENSP00000366546.4:p.Ser572Cys
ENST00000377331.6:c.1720A>T (CACNB2)	ENSP00000366548.2:p.Ser574Cys
ENST00000396576.6:c.1711A>T (CACNB2)	ENSP00000379821.2:p.Ser571Cys
ENST00000612134.4:c.1580A>T (CACNB2)	ENSP00000480563.1:n.1580A>T
ENST00000612743.1:c.388A>T (CACNB2)	ENSP00000478676.1:p.Ser130Cys
ENST00000615785.4:c.961A>T (CACNB2)	ENSP00000480260.1:p.Ser321Cys
ENST00000617363.4:c.1639A>T (CACNB2)	ENSP00000479756.1:p.Ser547Cys
NM_000724.3:c.1711A>T (CACNB2)	NP_000715.2:p.Ser571Cys
NM_001167945.1:c.1678A>T (CACNB2)	NP_001161417.1:p.Ser560Cys
NM_201570.2:c.1732A>T (CACNB2)	NP_963864.1:p.Ser578Cys
NM_201571.3:c.1792A>T (CACNB2)	NP_963865.2:p.Ser598Cys
NM_201572.3:c.1720A>T (CACNB2)	NP_963866.2:p.Ser574Cys
NM_201590.2:c.1714A>T (CACNB2)	NP_963884.2:p.Ser572Cys
NM_201593.2:c.1762A>T (CACNB2)	NP_963887.2:p.Ser588Cys
NM_201596.2:c.1876A>T (CACNB2)	NP_963890.2:p.Ser626Cys
NM_201597.2:c.1804A>T (CACNB2)	NP_963891.1:p.Ser602Cys
XM_005252588.2:c.1618A>T (CACNB2)	XP_005252645.1:p.Ser540Cys
XM_005252591.2:c.1036A>T (CACNB2)	XP_005252648.1:p.Ser346Cys
XM_006717502.2:c.1696A>T (CACNB2)	XP_006717565.1:p.Ser566Cys
XM_011519659.1:c.1642A>T (CACNB2)	XP_011517961.1:p.Ser548Cys
XM_011519660.1:c.1597A>T (CACNB2)	XP_011517962.1:p.Ser533Cys
NM_001330060.1:c.1597A>T (CACNB2)	NP_001316989.1:p.Ser533Cys
XM_005252588.4:c.1618A>T (CACNB2)	XP_005252645.1:p.Ser540Cys
XM_005252591.3:c.1036A>T (CACNB2)	XP_005252648.1:p.Ser346Cys
XM_006717502.3:c.1696A>T (CACNB2)	XP_006717565.1:p.Ser566Cys
XM_011519659.2:c.1642A>T (CACNB2)	XP_011517961.1:p.Ser548Cys
XM_017016625.1:c.1036A>T (CACNB2)	XP_016872114.1:p.Ser346Cys
XR_001747060.1:n.2423+2452T>A (NSUN6)
XR_001747198.1:n.2001A>T (CACNB2)
NM_000724.4:c.1711A>T (CACNB2)	NP_000715.2:p.Ser571Cys
NM_001167945.2:c.1678A>T (CACNB2)	NP_001161417.1:p.Ser560Cys
NM_001330060.2:c.1597A>T (CACNB2)	NP_001316989.1:p.Ser533Cys
NM_201570.3:c.1732A>T (CACNB2)	NP_963864.1:p.Ser578Cys
NM_201571.4:c.1792A>T (CACNB2)	NP_963865.2:p.Ser598Cys
NM_201572.4:c.1720A>T (CACNB2)	NP_963866.2:p.Ser574Cys
NM_201590.3:c.1714A>T (CACNB2) MANE Plus Clinical	NP_963884.2:p.Ser572Cys
NM_201593.3:c.1762A>T (CACNB2)	NP_963887.2:p.Ser588Cys
NM_201596.3:c.1876A>T (CACNB2) MANE Select	NP_963890.2:p.Ser626Cys
NM_201597.3:c.1804A>T (CACNB2)	NP_963891.1:p.Ser602Cys