Canonical Allele Identifier: CA376072638

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 2562823
• ClinVar RCV Id: RCV003296816
• dbSNP Id: rs1362502929
• gnomAD v2: 10-18828525-A-G
• gnomAD v3: 10-18539596-A-G
• gnomAD v4: 10-18539596-A-G
• MyVariant Identifiers: chr10:g.18828525A>G (hg19) ; chr10:g.18539596A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539596A>G , CM000672.2:g.18539596A>G	GRCh38
NC_000010.10:g.18828525A>G , CM000672.1:g.18828525A>G	GRCh37
NC_000010.9:g.18868531A>G	NCBI36
NG_016195.1:g.403920A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1711A>G (CACNB2)	ENSP00000366532.4:p.Asn571Asp
ENST00000377319.9:c.1576A>G (CACNB2)	ENSP00000366536.3:p.Asn526Asp
ENST00000645287.2:c.1699A>G (CACNB2)	ENSP00000496203.1:p.Asn567Asp
ENST00000282343.13:c.1771A>G (CACNB2)	ENSP00000282343.8:p.Asn591Asp
ENST00000324631.13:c.1855A>G (CACNB2) MANE Select	ENSP00000320025.8:p.Asn619Asp
ENST00000377315.5:c.1711A>G (CACNB2)	ENSP00000366532.4:p.Asn571Asp
ENST00000377319.8:c.1576A>G (CACNB2)	ENSP00000366536.3:p.Asn526Asp
ENST00000377329.10:c.1693A>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asn565Asp
ENST00000377331.8:c.1480A>G (CACNB2)	ENSP00000366548.4:p.Asn494Asp
ENST00000643096.2:c.1657A>G (CACNB2)	ENSP00000494209.2:p.Asn553Asp
ENST00000645287.1:c.1699A>G (CACNB2)	ENSP00000496203.1:p.Asn567Asp
ENST00000647168.2:c.*996A>G (CACNB2)	ENSP00000495854.2:n.*996A>G
ENST00000650685.1:c.1597A>G (CACNB2)	ENSP00000498460.1:p.Asn533Asp
ENST00000651330.1:c.*1129A>G (CACNB2)	ENSP00000498457.1:n.*1129A>G
ENST00000651468.1:c.1412A>G (CACNB2)	ENSP00000498352.1:n.1412A>G
ENST00000651928.1:c.*1094A>G (CACNB2)	ENSP00000499177.1:n.*1094A>G
ENST00000652391.1:c.1675A>G (CACNB2)	ENSP00000498938.1:p.Asn559Asp
ENST00000652478.1:c.*955A>G (CACNB2)	ENSP00000498812.1:n.*955A>G
ENST00000282343.12:c.1771A>G (CACNB2)	ENSP00000282343.8:p.Asn591Asp
ENST00000324631.11:c.1855A>G (CACNB2)	ENSP00000320025.7:p.Asn619Asp
ENST00000352115.10:c.1783A>G (CACNB2)	ENSP00000344474.6:p.Asn595Asp
ENST00000377315.4:c.1711A>G (CACNB2)	ENSP00000366532.4:p.Asn571Asp
ENST00000377319.7:c.1576A>G (CACNB2)	ENSP00000366536.3:p.Asn526Asp
ENST00000377328.5:c.1105A>G (CACNB2)	ENSP00000366545.1:p.Asn369Asp
ENST00000377329.8:c.1693A>G (CACNB2)	ENSP00000366546.4:p.Asn565Asp
ENST00000377331.6:c.1699A>G (CACNB2)	ENSP00000366548.2:p.Asn567Asp
ENST00000396576.6:c.1690A>G (CACNB2)	ENSP00000379821.2:p.Asn564Asp
ENST00000612134.4:c.1559A>G (CACNB2)	ENSP00000480563.1:n.1559A>G
ENST00000612743.1:c.367A>G (CACNB2)	ENSP00000478676.1:p.Asn123Asp
ENST00000615785.4:c.940A>G (CACNB2)	ENSP00000480260.1:p.Asn314Asp
ENST00000617363.4:c.1618A>G (CACNB2)	ENSP00000479756.1:p.Asn540Asp
NM_000724.3:c.1690A>G (CACNB2)	NP_000715.2:p.Asn564Asp
NM_001167945.1:c.1657A>G (CACNB2)	NP_001161417.1:p.Asn553Asp
NM_201570.2:c.1711A>G (CACNB2)	NP_963864.1:p.Asn571Asp
NM_201571.3:c.1771A>G (CACNB2)	NP_963865.2:p.Asn591Asp
NM_201572.3:c.1699A>G (CACNB2)	NP_963866.2:p.Asn567Asp
NM_201590.2:c.1693A>G (CACNB2)	NP_963884.2:p.Asn565Asp
NM_201593.2:c.1741A>G (CACNB2)	NP_963887.2:p.Asn581Asp
NM_201596.2:c.1855A>G (CACNB2)	NP_963890.2:p.Asn619Asp
NM_201597.2:c.1783A>G (CACNB2)	NP_963891.1:p.Asn595Asp
XM_005252588.2:c.1597A>G (CACNB2)	XP_005252645.1:p.Asn533Asp
XM_005252591.2:c.1015A>G (CACNB2)	XP_005252648.1:p.Asn339Asp
XM_006717502.2:c.1675A>G (CACNB2)	XP_006717565.1:p.Asn559Asp
XM_011519659.1:c.1621A>G (CACNB2)	XP_011517961.1:p.Asn541Asp
XM_011519660.1:c.1576A>G (CACNB2)	XP_011517962.1:p.Asn526Asp
NM_001330060.1:c.1576A>G (CACNB2)	NP_001316989.1:p.Asn526Asp
XM_005252588.4:c.1597A>G (CACNB2)	XP_005252645.1:p.Asn533Asp
XM_005252591.3:c.1015A>G (CACNB2)	XP_005252648.1:p.Asn339Asp
XM_006717502.3:c.1675A>G (CACNB2)	XP_006717565.1:p.Asn559Asp
XM_011519659.2:c.1621A>G (CACNB2)	XP_011517961.1:p.Asn541Asp
XM_017016625.1:c.1015A>G (CACNB2)	XP_016872114.1:p.Asn339Asp
XR_001747060.1:n.2423+2473T>C (NSUN6)
XR_001747198.1:n.1980A>G (CACNB2)
NM_000724.4:c.1690A>G (CACNB2)	NP_000715.2:p.Asn564Asp
NM_001167945.2:c.1657A>G (CACNB2)	NP_001161417.1:p.Asn553Asp
NM_001330060.2:c.1576A>G (CACNB2)	NP_001316989.1:p.Asn526Asp
NM_201570.3:c.1711A>G (CACNB2)	NP_963864.1:p.Asn571Asp
NM_201571.4:c.1771A>G (CACNB2)	NP_963865.2:p.Asn591Asp
NM_201572.4:c.1699A>G (CACNB2)	NP_963866.2:p.Asn567Asp
NM_201590.3:c.1693A>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asn565Asp
NM_201593.3:c.1741A>G (CACNB2)	NP_963887.2:p.Asn581Asp
NM_201596.3:c.1855A>G (CACNB2) MANE Select	NP_963890.2:p.Asn619Asp
NM_201597.3:c.1783A>G (CACNB2)	NP_963891.1:p.Asn595Asp