Canonical Allele Identifier: CA2574454616

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539452_18539459del , CM000672.2:g.18539452_18539459del	GRCh38
NC_000010.10:g.18828381_18828388del , CM000672.1:g.18828381_18828388del	GRCh37
NC_000010.9:g.18868387_18868394del	NCBI36
NG_016195.1:g.403776_403783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1567_1574del (CACNB2)	ENSP00000366532.4:p.Lys523LeufsTer4
ENST00000377319.9:c.1432_1439del (CACNB2)	ENSP00000366536.3:p.Lys478LeufsTer4
ENST00000645287.2:c.1555_1562del (CACNB2)	ENSP00000496203.1:p.Lys519LeufsTer4
ENST00000282343.13:c.1627_1634del (CACNB2)	ENSP00000282343.8:p.Lys543LeufsTer4
ENST00000324631.13:c.1711_1718del (CACNB2) MANE Select	ENSP00000320025.8:p.Lys571LeufsTer4
ENST00000377315.5:c.1567_1574del (CACNB2)	ENSP00000366532.4:p.Lys523LeufsTer4
ENST00000377319.8:c.1432_1439del (CACNB2)	ENSP00000366536.3:p.Lys478LeufsTer4
ENST00000377329.10:c.1549_1556del (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Lys517LeufsTer4
ENST00000377331.8:c.1336_1343del (CACNB2)	ENSP00000366548.4:p.Lys446LeufsTer4
ENST00000643096.2:c.1513_1520del (CACNB2)	ENSP00000494209.2:p.Lys505LeufsTer4
ENST00000645287.1:c.1555_1562del (CACNB2)	ENSP00000496203.1:p.Lys519LeufsTer4
ENST00000647168.2:c.*852_*859del (CACNB2)	ENSP00000495854.2:n.*852_*859del
ENST00000650685.1:c.1453_1460del (CACNB2)	ENSP00000498460.1:p.Lys485LeufsTer4
ENST00000651330.1:c.*985_*992del (CACNB2)	ENSP00000498457.1:n.*985_*992del
ENST00000651468.1:c.1268_1275del (CACNB2)	ENSP00000498352.1:n.1268_1275del
ENST00000651928.1:c.*950_*957del (CACNB2)	ENSP00000499177.1:n.*950_*957del
ENST00000652391.1:c.1531_1538del (CACNB2)	ENSP00000498938.1:p.Lys511LeufsTer4
ENST00000652478.1:c.*811_*818del (CACNB2)	ENSP00000498812.1:n.*811_*818del
ENST00000282343.12:c.1627_1634del (CACNB2)	ENSP00000282343.8:p.Lys543LeufsTer4
ENST00000324631.11:c.1711_1718del (CACNB2)	ENSP00000320025.7:p.Lys571LeufsTer4
ENST00000352115.10:c.1639_1646del (CACNB2)	ENSP00000344474.6:p.Lys547LeufsTer4
ENST00000377315.4:c.1567_1574del (CACNB2)	ENSP00000366532.4:p.Lys523LeufsTer4
ENST00000377319.7:c.1432_1439del (CACNB2)	ENSP00000366536.3:p.Lys478LeufsTer4
ENST00000377328.5:c.961_968del (CACNB2)	ENSP00000366545.1:p.Lys321LeufsTer4
ENST00000377329.8:c.1549_1556del (CACNB2)	ENSP00000366546.4:p.Lys517LeufsTer4
ENST00000377331.6:c.1555_1562del (CACNB2)	ENSP00000366548.2:p.Lys519LeufsTer4
ENST00000396576.6:c.1546_1553del (CACNB2)	ENSP00000379821.2:p.Lys516LeufsTer4
ENST00000612134.4:c.1415_1422del (CACNB2)	ENSP00000480563.1:n.1415_1422del
ENST00000612743.1:c.223_230del (CACNB2)	ENSP00000478676.1:p.Lys75LeufsTer4
ENST00000615785.4:c.796_803del (CACNB2)	ENSP00000480260.1:p.Lys266LeufsTer4
ENST00000617363.4:c.1474_1481del (CACNB2)	ENSP00000479756.1:p.Lys492LeufsTer4
NM_000724.3:c.1546_1553del (CACNB2)	NP_000715.2:p.Lys516LeufsTer4
NM_001167945.1:c.1513_1520del (CACNB2)	NP_001161417.1:p.Lys505LeufsTer4
NM_201570.2:c.1567_1574del (CACNB2)	NP_963864.1:p.Lys523LeufsTer4
NM_201571.3:c.1627_1634del (CACNB2)	NP_963865.2:p.Lys543LeufsTer4
NM_201572.3:c.1555_1562del (CACNB2)	NP_963866.2:p.Lys519LeufsTer4
NM_201590.2:c.1549_1556del (CACNB2)	NP_963884.2:p.Lys517LeufsTer4
NM_201593.2:c.1597_1604del (CACNB2)	NP_963887.2:p.Lys533LeufsTer4
NM_201596.2:c.1711_1718del (CACNB2)	NP_963890.2:p.Lys571LeufsTer4
NM_201597.2:c.1639_1646del (CACNB2)	NP_963891.1:p.Lys547LeufsTer4
XM_005252588.2:c.1453_1460del (CACNB2)	XP_005252645.1:p.Lys485LeufsTer4
XM_005252591.2:c.871_878del (CACNB2)	XP_005252648.1:p.Lys291LeufsTer4
XM_006717502.2:c.1531_1538del (CACNB2)	XP_006717565.1:p.Lys511LeufsTer4
XM_011519659.1:c.1477_1484del (CACNB2)	XP_011517961.1:p.Lys493LeufsTer4
XM_011519660.1:c.1432_1439del (CACNB2)	XP_011517962.1:p.Lys478LeufsTer4
NM_001330060.1:c.1432_1439del (CACNB2)	NP_001316989.1:p.Lys478LeufsTer4
XM_005252588.4:c.1453_1460del (CACNB2)	XP_005252645.1:p.Lys485LeufsTer4
XM_005252591.3:c.871_878del (CACNB2)	XP_005252648.1:p.Lys291LeufsTer4
XM_006717502.3:c.1531_1538del (CACNB2)	XP_006717565.1:p.Lys511LeufsTer4
XM_011519659.2:c.1477_1484del (CACNB2)	XP_011517961.1:p.Lys493LeufsTer4
XM_017016625.1:c.871_878del (CACNB2)	XP_016872114.1:p.Lys291LeufsTer4
XR_001747060.1:n.2423+2611_2423+2618del (NSUN6)
XR_001747198.1:n.1836_1843del (CACNB2)
NM_000724.4:c.1546_1553del (CACNB2)	NP_000715.2:p.Lys516LeufsTer4
NM_001167945.2:c.1513_1520del (CACNB2)	NP_001161417.1:p.Lys505LeufsTer4
NM_001330060.2:c.1432_1439del (CACNB2)	NP_001316989.1:p.Lys478LeufsTer4
NM_201570.3:c.1567_1574del (CACNB2)	NP_963864.1:p.Lys523LeufsTer4
NM_201571.4:c.1627_1634del (CACNB2)	NP_963865.2:p.Lys543LeufsTer4
NM_201572.4:c.1555_1562del (CACNB2)	NP_963866.2:p.Lys519LeufsTer4
NM_201590.3:c.1549_1556del (CACNB2) MANE Plus Clinical	NP_963884.2:p.Lys517LeufsTer4
NM_201593.3:c.1597_1604del (CACNB2)	NP_963887.2:p.Lys533LeufsTer4
NM_201596.3:c.1711_1718del (CACNB2) MANE Select	NP_963890.2:p.Lys571LeufsTer4
NM_201597.3:c.1639_1646del (CACNB2)	NP_963891.1:p.Lys547LeufsTer4