Canonical Allele Identifier: CA376071856

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828379C>T (hg19) ; chr10:g.18539450C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539450C>T , CM000672.2:g.18539450C>T	GRCh38
NC_000010.10:g.18828379C>T , CM000672.1:g.18828379C>T	GRCh37
NC_000010.9:g.18868385C>T	NCBI36
NG_016195.1:g.403774C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1565C>T (CACNB2)	ENSP00000366532.4:p.Pro522Leu
ENST00000377319.9:c.1430C>T (CACNB2)	ENSP00000366536.3:p.Pro477Leu
ENST00000645287.2:c.1553C>T (CACNB2)	ENSP00000496203.1:p.Pro518Leu
ENST00000282343.13:c.1625C>T (CACNB2)	ENSP00000282343.8:p.Pro542Leu
ENST00000324631.13:c.1709C>T (CACNB2) MANE Select	ENSP00000320025.8:p.Pro570Leu
ENST00000377315.5:c.1565C>T (CACNB2)	ENSP00000366532.4:p.Pro522Leu
ENST00000377319.8:c.1430C>T (CACNB2)	ENSP00000366536.3:p.Pro477Leu
ENST00000377329.10:c.1547C>T (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Pro516Leu
ENST00000377331.8:c.1334C>T (CACNB2)	ENSP00000366548.4:p.Pro445Leu
ENST00000643096.2:c.1511C>T (CACNB2)	ENSP00000494209.2:p.Pro504Leu
ENST00000645287.1:c.1553C>T (CACNB2)	ENSP00000496203.1:p.Pro518Leu
ENST00000647168.2:c.*850C>T (CACNB2)	ENSP00000495854.2:n.*850C>T
ENST00000650685.1:c.1451C>T (CACNB2)	ENSP00000498460.1:p.Pro484Leu
ENST00000651330.1:c.*983C>T (CACNB2)	ENSP00000498457.1:n.*983C>T
ENST00000651468.1:c.1266C>T (CACNB2)	ENSP00000498352.1:n.1266C>T
ENST00000651928.1:c.*948C>T (CACNB2)	ENSP00000499177.1:n.*948C>T
ENST00000652391.1:c.1529C>T (CACNB2)	ENSP00000498938.1:p.Pro510Leu
ENST00000652478.1:c.*809C>T (CACNB2)	ENSP00000498812.1:n.*809C>T
ENST00000282343.12:c.1625C>T (CACNB2)	ENSP00000282343.8:p.Pro542Leu
ENST00000324631.11:c.1709C>T (CACNB2)	ENSP00000320025.7:p.Pro570Leu
ENST00000352115.10:c.1637C>T (CACNB2)	ENSP00000344474.6:p.Pro546Leu
ENST00000377315.4:c.1565C>T (CACNB2)	ENSP00000366532.4:p.Pro522Leu
ENST00000377319.7:c.1430C>T (CACNB2)	ENSP00000366536.3:p.Pro477Leu
ENST00000377328.5:c.959C>T (CACNB2)	ENSP00000366545.1:p.Pro320Leu
ENST00000377329.8:c.1547C>T (CACNB2)	ENSP00000366546.4:p.Pro516Leu
ENST00000377331.6:c.1553C>T (CACNB2)	ENSP00000366548.2:p.Pro518Leu
ENST00000396576.6:c.1544C>T (CACNB2)	ENSP00000379821.2:p.Pro515Leu
ENST00000612134.4:c.1413C>T (CACNB2)	ENSP00000480563.1:n.1413C>T
ENST00000612743.1:c.221C>T (CACNB2)	ENSP00000478676.1:p.Pro74Leu
ENST00000615785.4:c.794C>T (CACNB2)	ENSP00000480260.1:p.Pro265Leu
ENST00000617363.4:c.1472C>T (CACNB2)	ENSP00000479756.1:p.Pro491Leu
NM_000724.3:c.1544C>T (CACNB2)	NP_000715.2:p.Pro515Leu
NM_001167945.1:c.1511C>T (CACNB2)	NP_001161417.1:p.Pro504Leu
NM_201570.2:c.1565C>T (CACNB2)	NP_963864.1:p.Pro522Leu
NM_201571.3:c.1625C>T (CACNB2)	NP_963865.2:p.Pro542Leu
NM_201572.3:c.1553C>T (CACNB2)	NP_963866.2:p.Pro518Leu
NM_201590.2:c.1547C>T (CACNB2)	NP_963884.2:p.Pro516Leu
NM_201593.2:c.1595C>T (CACNB2)	NP_963887.2:p.Pro532Leu
NM_201596.2:c.1709C>T (CACNB2)	NP_963890.2:p.Pro570Leu
NM_201597.2:c.1637C>T (CACNB2)	NP_963891.1:p.Pro546Leu
XM_005252588.2:c.1451C>T (CACNB2)	XP_005252645.1:p.Pro484Leu
XM_005252591.2:c.869C>T (CACNB2)	XP_005252648.1:p.Pro290Leu
XM_006717502.2:c.1529C>T (CACNB2)	XP_006717565.1:p.Pro510Leu
XM_011519659.1:c.1475C>T (CACNB2)	XP_011517961.1:p.Pro492Leu
XM_011519660.1:c.1430C>T (CACNB2)	XP_011517962.1:p.Pro477Leu
NM_001330060.1:c.1430C>T (CACNB2)	NP_001316989.1:p.Pro477Leu
XM_005252588.4:c.1451C>T (CACNB2)	XP_005252645.1:p.Pro484Leu
XM_005252591.3:c.869C>T (CACNB2)	XP_005252648.1:p.Pro290Leu
XM_006717502.3:c.1529C>T (CACNB2)	XP_006717565.1:p.Pro510Leu
XM_011519659.2:c.1475C>T (CACNB2)	XP_011517961.1:p.Pro492Leu
XM_017016625.1:c.869C>T (CACNB2)	XP_016872114.1:p.Pro290Leu
XR_001747060.1:n.2423+2619G>A (NSUN6)
XR_001747198.1:n.1834C>T (CACNB2)
NM_000724.4:c.1544C>T (CACNB2)	NP_000715.2:p.Pro515Leu
NM_001167945.2:c.1511C>T (CACNB2)	NP_001161417.1:p.Pro504Leu
NM_001330060.2:c.1430C>T (CACNB2)	NP_001316989.1:p.Pro477Leu
NM_201570.3:c.1565C>T (CACNB2)	NP_963864.1:p.Pro522Leu
NM_201571.4:c.1625C>T (CACNB2)	NP_963865.2:p.Pro542Leu
NM_201572.4:c.1553C>T (CACNB2)	NP_963866.2:p.Pro518Leu
NM_201590.3:c.1547C>T (CACNB2) MANE Plus Clinical	NP_963884.2:p.Pro516Leu
NM_201593.3:c.1595C>T (CACNB2)	NP_963887.2:p.Pro532Leu
NM_201596.3:c.1709C>T (CACNB2) MANE Select	NP_963890.2:p.Pro570Leu
NM_201597.3:c.1637C>T (CACNB2)	NP_963891.1:p.Pro546Leu