Canonical Allele Identifier: CA361754600

Gene: CAMK2A

Linked Data

• ClinVar Variation Id: 430912
• ClinVar RCV Id: RCV000516156 ; RCV000577897
• dbSNP Id: rs1554122526
• MyVariant Identifiers: chr5:g.149636374A>G (hg19) ; chr5:g.150256811A>G (hg38)
• PubMed: PMID:29100089

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150256811A>G , CM000667.2:g.150256811A>G	GRCh38
NC_000005.9:g.149636374A>G , CM000667.1:g.149636374A>G	GRCh37
NC_000005.8:g.149616567A>G	NCBI36
NG_047040.1:g.38030T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000348628.11:c.293T>C	ENSP00000261793.8:p.Phe98Ser
ENST00000515758.2:n.457T>C
ENST00000672404.2:n.457T>C
ENST00000682786.1:c.293T>C	ENSP00000507199.1:p.Phe98Ser
ENST00000683115.1:n.457T>C
ENST00000683332.1:c.233T>C	ENSP00000507006.1:p.Phe78Ser
ENST00000683506.1:c.293T>C	ENSP00000508302.1:p.Phe98Ser
ENST00000684093.1:n.451T>C
ENST00000684465.1:n.393T>C
ENST00000398376.8:c.293T>C	ENSP00000381412.4:p.Phe98Ser
ENST00000510347.2:c.293T>C	ENSP00000426607.2:p.Phe98Ser
ENST00000671881.1:c.293T>C MANE Select	ENSP00000500386.1:p.Phe98Ser
ENST00000672089.1:c.293T>C	ENSP00000500700.1:p.Phe98Ser
ENST00000672396.1:c.293T>C	ENSP00000499987.1:p.Phe98Ser
ENST00000672404.1:c.138T>C
ENST00000672479.1:c.293T>C	ENSP00000500642.1:p.Phe98Ser
ENST00000672752.1:c.293T>C	ENSP00000499939.1:p.Phe98Ser
ENST00000672785.1:c.293T>C	ENSP00000500496.1:p.Phe98Ser
ENST00000672829.1:c.293T>C	ENSP00000500613.1:p.Phe98Ser
ENST00000348628.10:c.293T>C	ENSP00000261793.8:p.Phe98Ser
ENST00000398376.7:c.293T>C	ENSP00000381412.3:p.Phe98Ser
ENST00000508662.5:n.381T>C
ENST00000515758.1:c.-92T>C	ENSP00000427580.1:n.-92T>C
NM_015981.3:c.293T>C	NP_057065.2:p.Phe98Ser
NM_171825.2:c.293T>C	NP_741960.1:p.Phe98Ser
NM_001363989.1:c.293T>C	NP_001350918.1:p.Phe98Ser
NM_001363990.1:c.293T>C	NP_001350919.1:p.Phe98Ser
XM_017009898.2:c.293T>C	XP_016865387.1:p.Phe98Ser
NM_001369025.2:c.293T>C	NP_001355954.1:p.Phe98Ser
NM_015981.4:c.293T>C MANE Select	NP_057065.2:p.Phe98Ser
NM_171825.3:c.293T>C	NP_741960.1:p.Phe98Ser