Canonical Allele Identifier: CA376071612

Gene: CACNB2 NSUN6

Linked Data

• gnomAD v4: 10-18539389-T-C
• COSMIC: COSM6065542 ; COSM6065543 ; COSM6065544 ; COSM6065545 ; COSM6065546 ; COSM6065547
• MyVariant Identifiers: chr10:g.18828318T>C (hg19) ; chr10:g.18539389T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539389T>C , CM000672.2:g.18539389T>C	GRCh38
NC_000010.10:g.18828318T>C , CM000672.1:g.18828318T>C	GRCh37
NC_000010.9:g.18868324T>C	NCBI36
NG_016195.1:g.403713T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1504T>C (CACNB2)	ENSP00000366532.4:p.Ser502Pro
ENST00000377319.9:c.1369T>C (CACNB2)	ENSP00000366536.3:p.Ser457Pro
ENST00000645287.2:c.1492T>C (CACNB2)	ENSP00000496203.1:p.Ser498Pro
ENST00000282343.13:c.1564T>C (CACNB2)	ENSP00000282343.8:p.Ser522Pro
ENST00000324631.13:c.1648T>C (CACNB2) MANE Select	ENSP00000320025.8:p.Ser550Pro
ENST00000377315.5:c.1504T>C (CACNB2)	ENSP00000366532.4:p.Ser502Pro
ENST00000377319.8:c.1369T>C (CACNB2)	ENSP00000366536.3:p.Ser457Pro
ENST00000377329.10:c.1486T>C (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Ser496Pro
ENST00000377331.8:c.1273T>C (CACNB2)	ENSP00000366548.4:p.Ser425Pro
ENST00000643096.2:c.1450T>C (CACNB2)	ENSP00000494209.2:p.Ser484Pro
ENST00000645287.1:c.1492T>C (CACNB2)	ENSP00000496203.1:p.Ser498Pro
ENST00000647168.2:c.*789T>C (CACNB2)	ENSP00000495854.2:n.*789T>C
ENST00000650685.1:c.1390T>C (CACNB2)	ENSP00000498460.1:p.Ser464Pro
ENST00000651330.1:c.*922T>C (CACNB2)	ENSP00000498457.1:n.*922T>C
ENST00000651468.1:c.1205T>C (CACNB2)	ENSP00000498352.1:n.1205T>C
ENST00000651928.1:c.*887T>C (CACNB2)	ENSP00000499177.1:n.*887T>C
ENST00000652391.1:c.1468T>C (CACNB2)	ENSP00000498938.1:p.Ser490Pro
ENST00000652478.1:c.*748T>C (CACNB2)	ENSP00000498812.1:n.*748T>C
ENST00000282343.12:c.1564T>C (CACNB2)	ENSP00000282343.8:p.Ser522Pro
ENST00000324631.11:c.1648T>C (CACNB2)	ENSP00000320025.7:p.Ser550Pro
ENST00000352115.10:c.1576T>C (CACNB2)	ENSP00000344474.6:p.Ser526Pro
ENST00000377315.4:c.1504T>C (CACNB2)	ENSP00000366532.4:p.Ser502Pro
ENST00000377319.7:c.1369T>C (CACNB2)	ENSP00000366536.3:p.Ser457Pro
ENST00000377328.5:c.898T>C (CACNB2)	ENSP00000366545.1:p.Ser300Pro
ENST00000377329.8:c.1486T>C (CACNB2)	ENSP00000366546.4:p.Ser496Pro
ENST00000377331.6:c.1492T>C (CACNB2)	ENSP00000366548.2:p.Ser498Pro
ENST00000396576.6:c.1483T>C (CACNB2)	ENSP00000379821.2:p.Ser495Pro
ENST00000612134.4:c.1352T>C (CACNB2)	ENSP00000480563.1:n.1352T>C
ENST00000612743.1:c.160T>C (CACNB2)	ENSP00000478676.1:p.Ser54Pro
ENST00000615785.4:c.733T>C (CACNB2)	ENSP00000480260.1:p.Ser245Pro
ENST00000617363.4:c.1411T>C (CACNB2)	ENSP00000479756.1:p.Ser471Pro
NM_000724.3:c.1483T>C (CACNB2)	NP_000715.2:p.Ser495Pro
NM_001167945.1:c.1450T>C (CACNB2)	NP_001161417.1:p.Ser484Pro
NM_201570.2:c.1504T>C (CACNB2)	NP_963864.1:p.Ser502Pro
NM_201571.3:c.1564T>C (CACNB2)	NP_963865.2:p.Ser522Pro
NM_201572.3:c.1492T>C (CACNB2)	NP_963866.2:p.Ser498Pro
NM_201590.2:c.1486T>C (CACNB2)	NP_963884.2:p.Ser496Pro
NM_201593.2:c.1534T>C (CACNB2)	NP_963887.2:p.Ser512Pro
NM_201596.2:c.1648T>C (CACNB2)	NP_963890.2:p.Ser550Pro
NM_201597.2:c.1576T>C (CACNB2)	NP_963891.1:p.Ser526Pro
XM_005252588.2:c.1390T>C (CACNB2)	XP_005252645.1:p.Ser464Pro
XM_005252591.2:c.808T>C (CACNB2)	XP_005252648.1:p.Ser270Pro
XM_006717502.2:c.1468T>C (CACNB2)	XP_006717565.1:p.Ser490Pro
XM_011519659.1:c.1414T>C (CACNB2)	XP_011517961.1:p.Ser472Pro
XM_011519660.1:c.1369T>C (CACNB2)	XP_011517962.1:p.Ser457Pro
NM_001330060.1:c.1369T>C (CACNB2)	NP_001316989.1:p.Ser457Pro
XM_005252588.4:c.1390T>C (CACNB2)	XP_005252645.1:p.Ser464Pro
XM_005252591.3:c.808T>C (CACNB2)	XP_005252648.1:p.Ser270Pro
XM_006717502.3:c.1468T>C (CACNB2)	XP_006717565.1:p.Ser490Pro
XM_011519659.2:c.1414T>C (CACNB2)	XP_011517961.1:p.Ser472Pro
XM_017016625.1:c.808T>C (CACNB2)	XP_016872114.1:p.Ser270Pro
XR_001747060.1:n.2423+2680A>G (NSUN6)
XR_001747198.1:n.1773T>C (CACNB2)
NM_000724.4:c.1483T>C (CACNB2)	NP_000715.2:p.Ser495Pro
NM_001167945.2:c.1450T>C (CACNB2)	NP_001161417.1:p.Ser484Pro
NM_001330060.2:c.1369T>C (CACNB2)	NP_001316989.1:p.Ser457Pro
NM_201570.3:c.1504T>C (CACNB2)	NP_963864.1:p.Ser502Pro
NM_201571.4:c.1564T>C (CACNB2)	NP_963865.2:p.Ser522Pro
NM_201572.4:c.1492T>C (CACNB2)	NP_963866.2:p.Ser498Pro
NM_201590.3:c.1486T>C (CACNB2) MANE Plus Clinical	NP_963884.2:p.Ser496Pro
NM_201593.3:c.1534T>C (CACNB2)	NP_963887.2:p.Ser512Pro
NM_201596.3:c.1648T>C (CACNB2) MANE Select	NP_963890.2:p.Ser550Pro
NM_201597.3:c.1576T>C (CACNB2)	NP_963891.1:p.Ser526Pro