Canonical Allele Identifier: CA5429595

Gene: CACNB2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18498363C>T , CM000672.2:g.18498363C>T	GRCh38
NC_000010.10:g.18787292C>T , CM000672.1:g.18787292C>T	GRCh37
NC_000010.9:g.18827298C>T	NCBI36
NG_016195.1:g.362687C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201596.3:c.342C>T MANE Select	NP_963890.2:p.Pro114=
ENST00000324631.13:c.342C>T MANE Select	ENSP00000320025.8:p.Pro114=
NM_201590.3:c.180C>T MANE Plus Clinical	NP_963884.2:p.Pro60=
ENST00000377329.10:c.180C>T MANE Plus Clinical	ENSP00000366546.4:p.Pro60=
NM_000724.3:c.177C>T	NP_000715.2:p.Pro59=
NM_000724.4:c.177C>T	NP_000715.2:p.Pro59=
NM_001167945.1:c.258C>T	NP_001161417.1:p.Pro86=
NM_001167945.2:c.258C>T	NP_001161417.1:p.Pro86=
NM_001330060.1:c.177C>T	NP_001316989.1:p.Pro59=
NM_001330060.2:c.177C>T	NP_001316989.1:p.Pro59=
NM_201570.2:c.198C>T	NP_963864.1:p.Pro66=
NM_201570.3:c.198C>T	NP_963864.1:p.Pro66=
NM_201571.3:c.258C>T	NP_963865.2:p.Pro86=
NM_201571.4:c.258C>T	NP_963865.2:p.Pro86=
NM_201572.3:c.258C>T	NP_963866.2:p.Pro86=
NM_201572.4:c.258C>T	NP_963866.2:p.Pro86=
NM_201590.2:c.180C>T	NP_963884.2:p.Pro60=
NM_201593.2:c.342C>T	NP_963887.2:p.Pro114=
NM_201593.3:c.342C>T	NP_963887.2:p.Pro114=
NM_201596.2:c.342C>T	NP_963890.2:p.Pro114=
NM_201597.2:c.342C>T	NP_963891.1:p.Pro114=
NM_201597.3:c.342C>T	NP_963891.1:p.Pro114=
ENST00000282343.12:c.258C>T	ENSP00000282343.8:p.Pro86=
ENST00000282343.13:c.258C>T	ENSP00000282343.8:p.Pro86=
ENST00000324631.11:c.342C>T	ENSP00000320025.7:p.Pro114=
ENST00000352115.10:c.342C>T	ENSP00000344474.6:p.Pro114=
ENST00000377315.4:c.198C>T	ENSP00000366532.4:p.Pro66=
ENST00000377315.5:c.198C>T	ENSP00000366532.4:p.Pro66=
ENST00000377315.6:c.198C>T	ENSP00000366532.4:p.Pro66=
ENST00000377319.7:c.177C>T	ENSP00000366536.3:p.Pro59=
ENST00000377319.8:c.177C>T	ENSP00000366536.3:p.Pro59=
ENST00000377319.9:c.177C>T	ENSP00000366536.3:p.Pro59=
ENST00000377328.5:c.342C>T	ENSP00000366545.1:p.Pro114=
ENST00000377329.8:c.180C>T	ENSP00000366546.4:p.Pro60=
ENST00000377331.6:c.258C>T	ENSP00000366548.2:p.Pro86=
ENST00000377331.8:c.177C>T	ENSP00000366548.4:p.Pro59=
ENST00000396576.6:c.177C>T	ENSP00000379821.2:p.Pro59=
ENST00000498816.1:n.390C>T
ENST00000612134.4:c.180C>T	ENSP00000480563.1:p.Pro60=
ENST00000612743.1:c.35-40901C>T	ENSP00000478676.1:n.35-40901C>T
ENST00000615785.4:c.177C>T	ENSP00000480260.1:p.Pro59=
ENST00000617363.4:c.177C>T	ENSP00000479756.1:p.Pro59=
ENST00000643096.2:c.258C>T	ENSP00000494209.2:p.Pro86=
ENST00000643330.1:n.543C>T
ENST00000644004.1:c.258C>T	ENSP00000495509.1:p.Pro86=
ENST00000645287.1:c.258C>T	ENSP00000496203.1:p.Pro86=
ENST00000645287.2:c.258C>T	ENSP00000496203.1:p.Pro86=
ENST00000647168.2:c.198C>T	ENSP00000495854.2:p.Pro66=
ENST00000650685.1:c.198C>T	ENSP00000498460.1:p.Pro66=
ENST00000651330.1:c.198C>T	ENSP00000498457.1:p.Pro66=
ENST00000651468.1:c.90C>T	ENSP00000498352.1:p.Pro30=
ENST00000651928.1:c.198C>T	ENSP00000499177.1:p.Pro66=
ENST00000652391.1:c.162C>T	ENSP00000498938.1:p.Pro54=
ENST00000652478.1:c.198C>T	ENSP00000498812.1:p.Pro66=
XM_005252588.2:c.198C>T	XP_005252645.1:p.Pro66=
XM_005252588.4:c.198C>T	XP_005252645.1:p.Pro66=
XM_006717502.2:c.162C>T	XP_006717565.1:p.Pro54=
XM_006717502.3:c.162C>T	XP_006717565.1:p.Pro54=
XM_011519659.1:c.180C>T	XP_011517961.1:p.Pro60=
XM_011519659.2:c.180C>T	XP_011517961.1:p.Pro60=
XM_011519660.1:c.177C>T	XP_011517962.1:p.Pro59=
XM_017016625.1:c.-447C>T	XP_016872114.1:n.-447C>T
XR_001747198.1:n.519C>T