Canonical Allele Identifier: CA1894173165

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539352_18539355delinsACAC , CM000672.2:g.18539352_18539355delinsACAC	GRCh38
NC_000010.10:g.18828281_18828284delinsACAC , CM000672.1:g.18828281_18828284delinsACAC	GRCh37
NC_000010.9:g.18868287_18868290delinsACAC	NCBI36
NG_016195.1:g.403676_403679delinsACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1467_1470delinsACAC (CACNB2)	ENSP00000366532.4:p.Pro489=
ENST00000377319.9:c.1332_1335delinsACAC (CACNB2)	ENSP00000366536.3:p.Pro444=
ENST00000645287.2:c.1455_1458delinsACAC (CACNB2)	ENSP00000496203.1:p.Pro485=
ENST00000282343.13:c.1527_1530delinsACAC (CACNB2)	ENSP00000282343.8:p.Pro509=
ENST00000324631.13:c.1611_1614delinsACAC (CACNB2) MANE Select	ENSP00000320025.8:p.Pro537=
ENST00000377315.5:c.1467_1470delinsACAC (CACNB2)	ENSP00000366532.4:p.Pro489=
ENST00000377319.8:c.1332_1335delinsACAC (CACNB2)	ENSP00000366536.3:p.Pro444=
ENST00000377329.10:c.1449_1452delinsACAC (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Pro483=
ENST00000377331.8:c.1236_1239delinsACAC (CACNB2)	ENSP00000366548.4:p.Pro412=
ENST00000643096.2:c.1413_1416delinsACAC (CACNB2)	ENSP00000494209.2:p.Pro471=
ENST00000645287.1:c.1455_1458delinsACAC (CACNB2)	ENSP00000496203.1:p.Pro485=
ENST00000647168.2:c.*752_*755delinsACAC (CACNB2)	ENSP00000495854.2:n.*752_*755delinsACAC
ENST00000650685.1:c.1353_1356delinsACAC (CACNB2)	ENSP00000498460.1:p.Pro451=
ENST00000651330.1:c.*885_*888delinsACAC (CACNB2)	ENSP00000498457.1:n.*885_*888delinsACAC
ENST00000651468.1:c.1168_1171delinsACAC (CACNB2)	ENSP00000498352.1:n.1168_1171delinsACAC
ENST00000651928.1:c.*850_*853delinsACAC (CACNB2)	ENSP00000499177.1:n.*850_*853delinsACAC
ENST00000652391.1:c.1431_1434delinsACAC (CACNB2)	ENSP00000498938.1:p.Pro477=
ENST00000652478.1:c.*711_*714delinsACAC (CACNB2)	ENSP00000498812.1:n.*711_*714delinsACAC
ENST00000282343.12:c.1527_1530delinsACAC (CACNB2)	ENSP00000282343.8:p.Pro509=
ENST00000324631.11:c.1611_1614delinsACAC (CACNB2)	ENSP00000320025.7:p.Pro537=
ENST00000352115.10:c.1539_1542delinsACAC (CACNB2)	ENSP00000344474.6:p.Pro513=
ENST00000377315.4:c.1467_1470delinsACAC (CACNB2)	ENSP00000366532.4:p.Pro489=
ENST00000377319.7:c.1332_1335delinsACAC (CACNB2)	ENSP00000366536.3:p.Pro444=
ENST00000377328.5:c.861_864delinsACAC (CACNB2)	ENSP00000366545.1:p.Pro287=
ENST00000377329.8:c.1449_1452delinsACAC (CACNB2)	ENSP00000366546.4:p.Pro483=
ENST00000377331.6:c.1455_1458delinsACAC (CACNB2)	ENSP00000366548.2:p.Pro485=
ENST00000396576.6:c.1446_1449delinsACAC (CACNB2)	ENSP00000379821.2:p.Pro482=
ENST00000612134.4:c.1315_1318delinsACAC (CACNB2)	ENSP00000480563.1:n.1315_1318delinsACAC
ENST00000612743.1:c.123_126delinsACAC (CACNB2)	ENSP00000478676.1:p.Pro41=
ENST00000615785.4:c.696_699delinsACAC (CACNB2)	ENSP00000480260.1:p.Pro232=
ENST00000617363.4:c.1374_1377delinsACAC (CACNB2)	ENSP00000479756.1:p.Pro458=
NM_000724.3:c.1446_1449delinsACAC (CACNB2)	NP_000715.2:p.Pro482=
NM_001167945.1:c.1413_1416delinsACAC (CACNB2)	NP_001161417.1:p.Pro471=
NM_201570.2:c.1467_1470delinsACAC (CACNB2)	NP_963864.1:p.Pro489=
NM_201571.3:c.1527_1530delinsACAC (CACNB2)	NP_963865.2:p.Pro509=
NM_201572.3:c.1455_1458delinsACAC (CACNB2)	NP_963866.2:p.Pro485=
NM_201590.2:c.1449_1452delinsACAC (CACNB2)	NP_963884.2:p.Pro483=
NM_201593.2:c.1497_1500delinsACAC (CACNB2)	NP_963887.2:p.Pro499=
NM_201596.2:c.1611_1614delinsACAC (CACNB2)	NP_963890.2:p.Pro537=
NM_201597.2:c.1539_1542delinsACAC (CACNB2)	NP_963891.1:p.Pro513=
XM_005252588.2:c.1353_1356delinsACAC (CACNB2)	XP_005252645.1:p.Pro451=
XM_005252591.2:c.771_774delinsACAC (CACNB2)	XP_005252648.1:p.Pro257=
XM_006717502.2:c.1431_1434delinsACAC (CACNB2)	XP_006717565.1:p.Pro477=
XM_011519659.1:c.1377_1380delinsACAC (CACNB2)	XP_011517961.1:p.Pro459=
XM_011519660.1:c.1332_1335delinsACAC (CACNB2)	XP_011517962.1:p.Pro444=
NM_001330060.1:c.1332_1335delinsACAC (CACNB2)	NP_001316989.1:p.Pro444=
XM_005252588.4:c.1353_1356delinsACAC (CACNB2)	XP_005252645.1:p.Pro451=
XM_005252591.3:c.771_774delinsACAC (CACNB2)	XP_005252648.1:p.Pro257=
XM_006717502.3:c.1431_1434delinsACAC (CACNB2)	XP_006717565.1:p.Pro477=
XM_011519659.2:c.1377_1380delinsACAC (CACNB2)	XP_011517961.1:p.Pro459=
XM_017016625.1:c.771_774delinsACAC (CACNB2)	XP_016872114.1:p.Pro257=
XR_001747060.1:n.2423+2714_2423+2717delinsGTGT (NSUN6)
XR_001747198.1:n.1736_1739delinsACAC (CACNB2)
NM_000724.4:c.1446_1449delinsACAC (CACNB2)	NP_000715.2:p.Pro482=
NM_001167945.2:c.1413_1416delinsACAC (CACNB2)	NP_001161417.1:p.Pro471=
NM_001330060.2:c.1332_1335delinsACAC (CACNB2)	NP_001316989.1:p.Pro444=
NM_201570.3:c.1467_1470delinsACAC (CACNB2)	NP_963864.1:p.Pro489=
NM_201571.4:c.1527_1530delinsACAC (CACNB2)	NP_963865.2:p.Pro509=
NM_201572.4:c.1455_1458delinsACAC (CACNB2)	NP_963866.2:p.Pro485=
NM_201590.3:c.1449_1452delinsACAC (CACNB2) MANE Plus Clinical	NP_963884.2:p.Pro483=
NM_201593.3:c.1497_1500delinsACAC (CACNB2)	NP_963887.2:p.Pro499=
NM_201596.3:c.1611_1614delinsACAC (CACNB2) MANE Select	NP_963890.2:p.Pro537=
NM_201597.3:c.1539_1542delinsACAC (CACNB2)	NP_963891.1:p.Pro513=