Canonical Allele Identifier: CA361749377

Gene: CAMK2A

Linked Data

• ClinVar Variation Id: 430918
• ClinVar RCV Id: RCV000516152 ; RCV000577925
• dbSNP Id: rs1554121872
• MyVariant Identifiers: chr5:g.149629833T>G (hg19) ; chr5:g.150250270T>G (hg38)
• PubMed: PMID:29100089

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150250270T>G , CM000667.2:g.150250270T>G	GRCh38
NC_000005.9:g.149629833T>G , CM000667.1:g.149629833T>G	GRCh37
NC_000005.8:g.149610026T>G	NCBI36
NG_047040.1:g.44571A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348628.11:c.856A>C	ENSP00000261793.8:p.Thr286Pro
ENST00000515758.2:n.1020A>C
ENST00000672404.2:n.1020A>C
ENST00000682786.1:c.856A>C	ENSP00000507199.1:p.Thr286Pro
ENST00000683115.1:n.1020A>C
ENST00000683332.1:c.796A>C	ENSP00000507006.1:p.Thr266Pro
ENST00000683506.1:c.*114A>C	ENSP00000508302.1:n.*114A>C
ENST00000684093.1:n.1014A>C
ENST00000684465.1:n.956A>C
ENST00000398376.8:c.856A>C	ENSP00000381412.4:p.Thr286Pro
ENST00000510347.2:c.856A>C	ENSP00000426607.2:p.Thr286Pro
ENST00000671881.1:c.856A>C MANE Select	ENSP00000500386.1:p.Thr286Pro
ENST00000672089.1:c.856A>C	ENSP00000500700.1:p.Thr286Pro
ENST00000672396.1:c.856A>C	ENSP00000499987.1:p.Thr286Pro
ENST00000672404.1:c.701A>C
ENST00000672479.1:c.856A>C	ENSP00000500642.1:p.Thr286Pro
ENST00000672752.1:c.856A>C	ENSP00000499939.1:p.Thr286Pro
ENST00000672785.1:c.823A>C	ENSP00000500496.1:p.Thr275Pro
ENST00000672829.1:c.856A>C	ENSP00000500613.1:p.Thr286Pro
ENST00000348628.10:c.856A>C	ENSP00000261793.8:p.Thr286Pro
ENST00000398376.7:c.856A>C	ENSP00000381412.3:p.Thr286Pro
ENST00000508662.5:n.944A>C
NM_015981.3:c.856A>C	NP_057065.2:p.Thr286Pro
NM_171825.2:c.856A>C	NP_741960.1:p.Thr286Pro
NM_001363989.1:c.856A>C	NP_001350918.1:p.Thr286Pro
NM_001363990.1:c.856A>C	NP_001350919.1:p.Thr286Pro
XM_017009898.2:c.856A>C	XP_016865387.1:p.Thr286Pro
NM_001369025.2:c.856A>C	NP_001355954.1:p.Thr286Pro
NM_015981.4:c.856A>C MANE Select	NP_057065.2:p.Thr286Pro
NM_171825.3:c.856A>C	NP_741960.1:p.Thr286Pro