Canonical Allele Identifier: CA129143921

Gene: CAMK2A

Linked Data

• dbSNP Id: rs367642211
• gnomAD v2: 5-149623408-A-C
• gnomAD v3: 5-150243845-A-C
• gnomAD v4: 5-150243845-A-C
• MyVariant Identifiers: chr5:g.149623408A>C (hg19) ; chr5:g.150243845A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150243845A>C , CM000667.2:g.150243845A>C	GRCh38
NC_000005.9:g.149623408A>C , CM000667.1:g.149623408A>C	GRCh37
NC_000005.8:g.149603601A>C	NCBI36
NG_047040.1:g.50996T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348628.11:c.984+1316T>G	ENSP00000261793.8:n.984+1316T>G
ENST00000672404.2:n.1148+1316T>G
ENST00000682786.1:c.984+1316T>G	ENSP00000507199.1:n.984+1316T>G
ENST00000683115.1:n.1148+1316T>G
ENST00000683332.1:c.924+1316T>G	ENSP00000507006.1:n.924+1316T>G
ENST00000684093.1:n.1142+1316T>G
ENST00000684465.1:n.1084+1316T>G
ENST00000398376.8:c.984+1316T>G	ENSP00000381412.4:n.984+1316T>G
ENST00000510347.2:c.984+1316T>G	ENSP00000426607.2:n.984+1316T>G
ENST00000671881.1:c.984+1316T>G MANE Select	ENSP00000500386.1:n.984+1316T>G
ENST00000672089.1:c.984+1316T>G	ENSP00000500700.1:n.984+1316T>G
ENST00000672396.1:c.984+1316T>G	ENSP00000499987.1:n.984+1316T>G
ENST00000672404.1:c.829+1316T>G
ENST00000672479.1:c.984+1316T>G	ENSP00000500642.1:n.984+1316T>G
ENST00000672752.1:c.984+1316T>G	ENSP00000499939.1:n.984+1316T>G
ENST00000672785.1:c.951+1316T>G	ENSP00000500496.1:n.951+1316T>G
ENST00000672829.1:c.984+1316T>G	ENSP00000500613.1:n.984+1316T>G
ENST00000348628.10:c.984+1316T>G	ENSP00000261793.8:n.984+1316T>G
ENST00000351010.6:n.168+1316T>G
ENST00000398376.7:c.984+1316T>G	ENSP00000381412.3:n.984+1316T>G
ENST00000508662.5:n.1072+1316T>G
NM_015981.3:c.984+1316T>G	NP_057065.2:n.984+1316T>G
NM_171825.2:c.984+1316T>G	NP_741960.1:n.984+1316T>G
NM_001363989.1:c.984+1316T>G	NP_001350918.1:n.984+1316T>G
NM_001363990.1:c.984+1316T>G	NP_001350919.1:n.984+1316T>G
XM_017009898.2:c.984+1316T>G	XP_016865387.1:n.984+1316T>G
NM_001369025.2:c.984+1316T>G	NP_001355954.1:n.984+1316T>G
NM_015981.4:c.984+1316T>G MANE Select	NP_057065.2:n.984+1316T>G
NM_171825.3:c.984+1316T>G	NP_741960.1:n.984+1316T>G