Canonical Allele Identifier: CA2580081383
Community Standard Title: NM_201596.3(CACNB2):c.1920_1924dup (p.Ile642LysfsTer2)
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539661_18539665dup , CM000672.2:g.18539661_18539665dup GRCh38
NC_000010.10:g.18828590_18828594dup , CM000672.1:g.18828590_18828594dup GRCh37
NC_000010.9:g.18868596_18868600dup NCBI36
NG_016195.1:g.403985_403989dup

Transcript Alleles

HGVS Amino-acid Change
NM_201596.3:c.1920_1924dup (CACNB2) MANE Select NP_963890.2:p.Ile642LysfsTer2
ENST00000324631.13:c.1920_1924dup (CACNB2) MANE Select ENSP00000320025.8:p.Ile642LysfsTer2
NM_201590.3:c.1758_1762dup (CACNB2) MANE Plus Clinical NP_963884.2:p.Ile588LysfsTer2
ENST00000377329.10:c.1758_1762dup (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Ile588LysfsTer2
NM_000724.3:c.1755_1759dup (CACNB2) NP_000715.2:p.Ile587LysfsTer2
NM_000724.4:c.1755_1759dup (CACNB2) NP_000715.2:p.Ile587LysfsTer2
NM_001167945.1:c.1722_1726dup (CACNB2) NP_001161417.1:p.Ile576LysfsTer2
NM_001167945.2:c.1722_1726dup (CACNB2) NP_001161417.1:p.Ile576LysfsTer2
NM_001330060.1:c.1641_1645dup (CACNB2) NP_001316989.1:p.Ile549LysfsTer2
NM_001330060.2:c.1641_1645dup (CACNB2) NP_001316989.1:p.Ile549LysfsTer2
NM_201570.2:c.1776_1780dup (CACNB2) NP_963864.1:p.Ile594LysfsTer2
NM_201570.3:c.1776_1780dup (CACNB2) NP_963864.1:p.Ile594LysfsTer2
NM_201571.3:c.1836_1840dup (CACNB2) NP_963865.2:p.Ile614LysfsTer2
NM_201571.4:c.1836_1840dup (CACNB2) NP_963865.2:p.Ile614LysfsTer2
NM_201572.3:c.1764_1768dup (CACNB2) NP_963866.2:p.Ile590LysfsTer2
NM_201572.4:c.1764_1768dup (CACNB2) NP_963866.2:p.Ile590LysfsTer2
NM_201590.2:c.1758_1762dup (CACNB2) NP_963884.2:p.Ile588LysfsTer2
NM_201593.2:c.1806_1810dup (CACNB2) NP_963887.2:p.Ile604LysfsTer2
NM_201593.3:c.1806_1810dup (CACNB2) NP_963887.2:p.Ile604LysfsTer2
NM_201596.2:c.1920_1924dup (CACNB2) NP_963890.2:p.Ile642LysfsTer2
NM_201597.2:c.1848_1852dup (CACNB2) NP_963891.1:p.Ile618LysfsTer2
NM_201597.3:c.1848_1852dup (CACNB2) NP_963891.1:p.Ile618LysfsTer2
ENST00000282343.12:c.1836_1840dup (CACNB2) ENSP00000282343.8:p.Ile614LysfsTer2
ENST00000282343.13:c.1836_1840dup (CACNB2) ENSP00000282343.8:p.Ile614LysfsTer2
ENST00000324631.11:c.1920_1924dup (CACNB2) ENSP00000320025.7:p.Ile642LysfsTer2
ENST00000352115.10:c.1848_1852dup (CACNB2) ENSP00000344474.6:p.Ile618LysfsTer2
ENST00000377315.4:c.1776_1780dup (CACNB2) ENSP00000366532.4:p.Ile594LysfsTer2
ENST00000377315.5:c.1776_1780dup (CACNB2) ENSP00000366532.4:p.Ile594LysfsTer2
ENST00000377315.6:c.1776_1780dup (CACNB2) ENSP00000366532.4:p.Ile594LysfsTer2
ENST00000377319.7:c.1641_1645dup (CACNB2) ENSP00000366536.3:p.Ile549LysfsTer2
ENST00000377319.8:c.1641_1645dup (CACNB2) ENSP00000366536.3:p.Ile549LysfsTer2
ENST00000377319.9:c.1641_1645dup (CACNB2) ENSP00000366536.3:p.Ile549LysfsTer2
ENST00000377328.5:c.1170_1174dup (CACNB2) ENSP00000366545.1:p.Ile392LysfsTer2
ENST00000377329.8:c.1758_1762dup (CACNB2) ENSP00000366546.4:p.Ile588LysfsTer2
ENST00000377331.6:c.1764_1768dup (CACNB2) ENSP00000366548.2:p.Ile590LysfsTer2
ENST00000377331.8:c.1545_1549dup (CACNB2) ENSP00000366548.4:p.Ile517LysfsTer2
ENST00000396576.6:c.1755_1759dup (CACNB2) ENSP00000379821.2:p.Ile587LysfsTer2
ENST00000612134.4:c.1624_1628dup (CACNB2) ENSP00000480563.1:n.1624_1628dup
ENST00000612743.1:c.432_436dup (CACNB2) ENSP00000478676.1:p.Ile146LysfsTer2
ENST00000615785.4:c.1005_1009dup (CACNB2) ENSP00000480260.1:p.Ile337LysfsTer2
ENST00000617363.4:c.1683_1687dup (CACNB2) ENSP00000479756.1:p.Ile563LysfsTer2
ENST00000643096.2:c.1722_1726dup (CACNB2) ENSP00000494209.2:p.Ile576LysfsTer2
ENST00000645287.1:c.1764_1768dup (CACNB2) ENSP00000496203.1:p.Ile590LysfsTer2
ENST00000645287.2:c.1764_1768dup (CACNB2) ENSP00000496203.1:p.Ile590LysfsTer2
ENST00000647168.2:c.*1061_*1065dup (CACNB2) ENSP00000495854.2:n.*1061_*1065dup
ENST00000650685.1:c.1662_1666dup (CACNB2) ENSP00000498460.1:p.Ile556LysfsTer2
ENST00000651330.1:c.*1194_*1198dup (CACNB2) ENSP00000498457.1:n.*1194_*1198dup
ENST00000651468.1:c.1477_1481dup (CACNB2) ENSP00000498352.1:n.1477_1481dup
ENST00000651928.1:c.*1159_*1163dup (CACNB2) ENSP00000499177.1:n.*1159_*1163dup
ENST00000652391.1:c.1740_1744dup (CACNB2) ENSP00000498938.1:p.Ile582LysfsTer2
ENST00000652478.1:c.*1020_*1024dup (CACNB2) ENSP00000498812.1:n.*1020_*1024dup
XM_005252588.2:c.1662_1666dup (CACNB2) XP_005252645.1:p.Ile556LysfsTer2
XM_005252588.4:c.1662_1666dup (CACNB2) XP_005252645.1:p.Ile556LysfsTer2
XM_005252591.2:c.1080_1084dup (CACNB2) XP_005252648.1:p.Ile362LysfsTer2
XM_005252591.3:c.1080_1084dup (CACNB2) XP_005252648.1:p.Ile362LysfsTer2
XM_006717502.2:c.1740_1744dup (CACNB2) XP_006717565.1:p.Ile582LysfsTer2
XM_006717502.3:c.1740_1744dup (CACNB2) XP_006717565.1:p.Ile582LysfsTer2
XM_011519659.1:c.1686_1690dup (CACNB2) XP_011517961.1:p.Ile564LysfsTer2
XM_011519659.2:c.1686_1690dup (CACNB2) XP_011517961.1:p.Ile564LysfsTer2
XM_011519660.1:c.1641_1645dup (CACNB2) XP_011517962.1:p.Ile549LysfsTer2
XM_017016625.1:c.1080_1084dup (CACNB2) XP_016872114.1:p.Ile362LysfsTer2
XR_001747060.1:n.2423+2406_2423+2410dup (NSUN6)
XR_001747198.1:n.2045_2049dup (CACNB2)