Canonical Allele Identifier: CA2608435634

Gene: CACNB2 NSUN6

Linked Data

• gnomAD v4: 10-18539537-A-ACCACAGACACAGGGAGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539540_18539557dup , CM000672.2:g.18539540_18539557dup	GRCh38
NC_000010.10:g.18828469_18828486dup , CM000672.1:g.18828469_18828486dup	GRCh37
NC_000010.9:g.18868475_18868492dup	NCBI36
NG_016195.1:g.403864_403881dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000377315.6:c.1655_1672dup (CACNB2)	ENSP00000366532.4:p.Ser557_Arg558insHisArgHisArgGluSer
ENST00000377319.9:c.1520_1537dup (CACNB2)	ENSP00000366536.3:p.Ser512_Arg513insHisArgHisArgGluSer
ENST00000645287.2:c.1643_1660dup (CACNB2)	ENSP00000496203.1:p.Ser553_Arg554insHisArgHisArgGluSer
ENST00000282343.13:c.1715_1732dup (CACNB2)	ENSP00000282343.8:p.Ser577_Arg578insHisArgHisArgGluSer
ENST00000324631.13:c.1799_1816dup (CACNB2) MANE Select	ENSP00000320025.8:p.Ser605_Arg606insHisArgHisArgGluSer
ENST00000377315.5:c.1655_1672dup (CACNB2)	ENSP00000366532.4:p.Ser557_Arg558insHisArgHisArgGluSer
ENST00000377319.8:c.1520_1537dup (CACNB2)	ENSP00000366536.3:p.Ser512_Arg513insHisArgHisArgGluSer
ENST00000377329.10:c.1637_1654dup (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Ser551_Arg552insHisArgHisArgGluSer
ENST00000377331.8:c.1424_1441dup (CACNB2)	ENSP00000366548.4:p.Ser480_Arg481insHisArgHisArgGluSer
ENST00000643096.2:c.1601_1618dup (CACNB2)	ENSP00000494209.2:p.Ser539_Arg540insHisArgHisArgGluSer
ENST00000645287.1:c.1643_1660dup (CACNB2)	ENSP00000496203.1:p.Ser553_Arg554insHisArgHisArgGluSer
ENST00000647168.2:c.*940_*957dup (CACNB2)	ENSP00000495854.2:n.*940_*957dup
ENST00000650685.1:c.1541_1558dup (CACNB2)	ENSP00000498460.1:p.Ser519_Arg520insHisArgHisArgGluSer
ENST00000651330.1:c.*1073_*1090dup (CACNB2)	ENSP00000498457.1:n.*1073_*1090dup
ENST00000651468.1:c.1356_1373dup (CACNB2)	ENSP00000498352.1:n.1356_1373dup
ENST00000651928.1:c.*1038_*1055dup (CACNB2)	ENSP00000499177.1:n.*1038_*1055dup
ENST00000652391.1:c.1619_1636dup (CACNB2)	ENSP00000498938.1:p.Ser545_Arg546insHisArgHisArgGluSer
ENST00000652478.1:c.*899_*916dup (CACNB2)	ENSP00000498812.1:n.*899_*916dup
ENST00000282343.12:c.1715_1732dup (CACNB2)	ENSP00000282343.8:p.Ser577_Arg578insHisArgHisArgGluSer
ENST00000324631.11:c.1799_1816dup (CACNB2)	ENSP00000320025.7:p.Ser605_Arg606insHisArgHisArgGluSer
ENST00000352115.10:c.1727_1744dup (CACNB2)	ENSP00000344474.6:p.Ser581_Arg582insHisArgHisArgGluSer
ENST00000377315.4:c.1655_1672dup (CACNB2)	ENSP00000366532.4:p.Ser557_Arg558insHisArgHisArgGluSer
ENST00000377319.7:c.1520_1537dup (CACNB2)	ENSP00000366536.3:p.Ser512_Arg513insHisArgHisArgGluSer
ENST00000377328.5:c.1049_1066dup (CACNB2)	ENSP00000366545.1:p.Ser355_Arg356insHisArgHisArgGluSer
ENST00000377329.8:c.1637_1654dup (CACNB2)	ENSP00000366546.4:p.Ser551_Arg552insHisArgHisArgGluSer
ENST00000377331.6:c.1643_1660dup (CACNB2)	ENSP00000366548.2:p.Ser553_Arg554insHisArgHisArgGluSer
ENST00000396576.6:c.1634_1651dup (CACNB2)	ENSP00000379821.2:p.Ser550_Arg551insHisArgHisArgGluSer
ENST00000612134.4:c.1503_1520dup (CACNB2)	ENSP00000480563.1:n.1503_1520dup
ENST00000612743.1:c.311_328dup (CACNB2)	ENSP00000478676.1:p.Ser109_Arg110insHisArgHisArgGluSer
ENST00000615785.4:c.884_901dup (CACNB2)	ENSP00000480260.1:p.Ser300_Arg301insHisArgHisArgGluSer
ENST00000617363.4:c.1562_1579dup (CACNB2)	ENSP00000479756.1:p.Ser526_Arg527insHisArgHisArgGluSer
NM_000724.3:c.1634_1651dup (CACNB2)	NP_000715.2:p.Ser550_Arg551insHisArgHisArgGluSer
NM_001167945.1:c.1601_1618dup (CACNB2)	NP_001161417.1:p.Ser539_Arg540insHisArgHisArgGluSer
NM_201570.2:c.1655_1672dup (CACNB2)	NP_963864.1:p.Ser557_Arg558insHisArgHisArgGluSer
NM_201571.3:c.1715_1732dup (CACNB2)	NP_963865.2:p.Ser577_Arg578insHisArgHisArgGluSer
NM_201572.3:c.1643_1660dup (CACNB2)	NP_963866.2:p.Ser553_Arg554insHisArgHisArgGluSer
NM_201590.2:c.1637_1654dup (CACNB2)	NP_963884.2:p.Ser551_Arg552insHisArgHisArgGluSer
NM_201593.2:c.1685_1702dup (CACNB2)	NP_963887.2:p.Ser567_Arg568insHisArgHisArgGluSer
NM_201596.2:c.1799_1816dup (CACNB2)	NP_963890.2:p.Ser605_Arg606insHisArgHisArgGluSer
NM_201597.2:c.1727_1744dup (CACNB2)	NP_963891.1:p.Ser581_Arg582insHisArgHisArgGluSer
XM_005252588.2:c.1541_1558dup (CACNB2)	XP_005252645.1:p.Ser519_Arg520insHisArgHisArgGluSer
XM_005252591.2:c.959_976dup (CACNB2)	XP_005252648.1:p.Ser325_Arg326insHisArgHisArgGluSer
XM_006717502.2:c.1619_1636dup (CACNB2)	XP_006717565.1:p.Ser545_Arg546insHisArgHisArgGluSer
XM_011519659.1:c.1565_1582dup (CACNB2)	XP_011517961.1:p.Ser527_Arg528insHisArgHisArgGluSer
XM_011519660.1:c.1520_1537dup (CACNB2)	XP_011517962.1:p.Ser512_Arg513insHisArgHisArgGluSer
NM_001330060.1:c.1520_1537dup (CACNB2)	NP_001316989.1:p.Ser512_Arg513insHisArgHisArgGluSer
XM_005252588.4:c.1541_1558dup (CACNB2)	XP_005252645.1:p.Ser519_Arg520insHisArgHisArgGluSer
XM_005252591.3:c.959_976dup (CACNB2)	XP_005252648.1:p.Ser325_Arg326insHisArgHisArgGluSer
XM_006717502.3:c.1619_1636dup (CACNB2)	XP_006717565.1:p.Ser545_Arg546insHisArgHisArgGluSer
XM_011519659.2:c.1565_1582dup (CACNB2)	XP_011517961.1:p.Ser527_Arg528insHisArgHisArgGluSer
XM_017016625.1:c.959_976dup (CACNB2)	XP_016872114.1:p.Ser325_Arg326insHisArgHisArgGluSer
XR_001747060.1:n.2423+2514_2423+2531dup (NSUN6)
XR_001747198.1:n.1924_1941dup (CACNB2)
NM_000724.4:c.1634_1651dup (CACNB2)	NP_000715.2:p.Ser550_Arg551insHisArgHisArgGluSer
NM_001167945.2:c.1601_1618dup (CACNB2)	NP_001161417.1:p.Ser539_Arg540insHisArgHisArgGluSer
NM_001330060.2:c.1520_1537dup (CACNB2)	NP_001316989.1:p.Ser512_Arg513insHisArgHisArgGluSer
NM_201570.3:c.1655_1672dup (CACNB2)	NP_963864.1:p.Ser557_Arg558insHisArgHisArgGluSer
NM_201571.4:c.1715_1732dup (CACNB2)	NP_963865.2:p.Ser577_Arg578insHisArgHisArgGluSer
NM_201572.4:c.1643_1660dup (CACNB2)	NP_963866.2:p.Ser553_Arg554insHisArgHisArgGluSer
NM_201590.3:c.1637_1654dup (CACNB2) MANE Plus Clinical	NP_963884.2:p.Ser551_Arg552insHisArgHisArgGluSer
NM_201593.3:c.1685_1702dup (CACNB2)	NP_963887.2:p.Ser567_Arg568insHisArgHisArgGluSer
NM_201596.3:c.1799_1816dup (CACNB2) MANE Select	NP_963890.2:p.Ser605_Arg606insHisArgHisArgGluSer
NM_201597.3:c.1727_1744dup (CACNB2)	NP_963891.1:p.Ser581_Arg582insHisArgHisArgGluSer