Canonical Allele Identifier: CA925494107

Gene: CACNB2

Linked Data

• dbSNP Id: rs2048146191
• gnomAD v3: 10-18470765-TG-T
• gnomAD v4: 10-18470765-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18470766del , CM000672.2:g.18470766del	GRCh38
NC_000010.10:g.18759695del , CM000672.1:g.18759695del	GRCh37
NC_000010.9:g.18799701del	NCBI36
NG_016195.1:g.335090del

Transcript Alleles

HGVS	Amino-acid change
ENST00000377315.6:c.190-27589del	ENSP00000366532.4:n.190-27589del
ENST00000377319.9:c.169-27589del	ENSP00000366536.3:n.169-27589del
ENST00000645287.2:c.250-27589del	ENSP00000496203.1:n.250-27589del
ENST00000282343.13:c.250-27589del	ENSP00000282343.8:n.250-27589del
ENST00000324631.13:c.334-27589del MANE Select	ENSP00000320025.8:n.334-27589del
ENST00000377315.5:c.190-27589del	ENSP00000366532.4:n.190-27589del
ENST00000377319.8:c.169-27589del	ENSP00000366536.3:n.169-27589del
ENST00000377329.10:c.172-27589del MANE Plus Clinical	ENSP00000366546.4:n.172-27589del
ENST00000377331.8:c.169-27589del	ENSP00000366548.4:n.169-27589del
ENST00000643096.2:c.250-27589del	ENSP00000494209.2:n.250-27589del
ENST00000643330.1:n.535-27589del
ENST00000644004.1:c.250-27589del	ENSP00000495509.1:n.250-27589del
ENST00000645287.1:c.250-27589del	ENSP00000496203.1:n.250-27589del
ENST00000647168.2:c.190-27589del	ENSP00000495854.2:n.190-27589del
ENST00000650685.1:c.190-27589del	ENSP00000498460.1:n.190-27589del
ENST00000651330.1:c.190-27589del	ENSP00000498457.1:n.190-27589del
ENST00000651468.1:c.82-27589del	ENSP00000498352.1:n.82-27589del
ENST00000651928.1:c.190-27589del	ENSP00000499177.1:n.190-27589del
ENST00000652391.1:c.154-27589del	ENSP00000498938.1:n.154-27589del
ENST00000652478.1:c.190-27589del	ENSP00000498812.1:n.190-27589del
ENST00000282343.12:c.250-27589del	ENSP00000282343.8:n.250-27589del
ENST00000324631.11:c.334-27589del	ENSP00000320025.7:n.334-27589del
ENST00000352115.10:c.334-27589del	ENSP00000344474.6:n.334-27589del
ENST00000377315.4:c.190-27589del	ENSP00000366532.4:n.190-27589del
ENST00000377319.7:c.169-27589del	ENSP00000366536.3:n.169-27589del
ENST00000377328.5:c.334-27589del	ENSP00000366545.1:n.334-27589del
ENST00000377329.8:c.172-27589del	ENSP00000366546.4:n.172-27589del
ENST00000377331.6:c.250-27589del	ENSP00000366548.2:n.250-27589del
ENST00000396576.6:c.169-27589del	ENSP00000379821.2:n.169-27589del
ENST00000498816.1:n.382-27589del
ENST00000612134.4:c.172-27589del	ENSP00000480563.1:n.172-27589del
ENST00000612743.1:c.35-68498del	ENSP00000478676.1:n.35-68498del
ENST00000615785.4:c.169-27589del	ENSP00000480260.1:n.169-27589del
ENST00000617363.4:c.169-27589del	ENSP00000479756.1:n.169-27589del
NM_000724.3:c.169-27589del	NP_000715.2:n.169-27589del
NM_001167945.1:c.250-27589del	NP_001161417.1:n.250-27589del
NM_201570.2:c.190-27589del	NP_963864.1:n.190-27589del
NM_201571.3:c.250-27589del	NP_963865.2:n.250-27589del
NM_201572.3:c.250-27589del	NP_963866.2:n.250-27589del
NM_201590.2:c.172-27589del	NP_963884.2:n.172-27589del
NM_201593.2:c.334-27589del	NP_963887.2:n.334-27589del
NM_201596.2:c.334-27589del	NP_963890.2:n.334-27589del
NM_201597.2:c.334-27589del	NP_963891.1:n.334-27589del
XM_005252588.2:c.190-27589del	XP_005252645.1:n.190-27589del
XM_006717502.2:c.154-27589del	XP_006717565.1:n.154-27589del
XM_011519659.1:c.172-27589del	XP_011517961.1:n.172-27589del
XM_011519660.1:c.169-27589del	XP_011517962.1:n.169-27589del
NM_001330060.1:c.169-27589del	NP_001316989.1:n.169-27589del
XM_005252588.4:c.190-27589del	XP_005252645.1:n.190-27589del
XM_006717502.3:c.154-27589del	XP_006717565.1:n.154-27589del
XM_011519659.2:c.172-27589del	XP_011517961.1:n.172-27589del
XM_017016625.1:c.-455-27589del	XP_016872114.1:n.-455-27589del
XR_001747198.1:n.511-27589del
NM_000724.4:c.169-27589del	NP_000715.2:n.169-27589del
NM_001167945.2:c.250-27589del	NP_001161417.1:n.250-27589del
NM_001330060.2:c.169-27589del	NP_001316989.1:n.169-27589del
NM_201570.3:c.190-27589del	NP_963864.1:n.190-27589del
NM_201571.4:c.250-27589del	NP_963865.2:n.250-27589del
NM_201572.4:c.250-27589del	NP_963866.2:n.250-27589del
NM_201590.3:c.172-27589del MANE Plus Clinical	NP_963884.2:n.172-27589del
NM_201593.3:c.334-27589del	NP_963887.2:n.334-27589del
NM_201596.3:c.334-27589del MANE Select	NP_963890.2:n.334-27589del
NM_201597.3:c.334-27589del	NP_963891.1:n.334-27589del