Canonical Allele Identifier: CA447160142

Gene: CAMK2A

Linked Data

• dbSNP Id: rs1474451923
• gnomAD v2: 5-149636175-C-T
• gnomAD v4: 5-150256612-C-T
• MyVariant Identifiers: chr5:g.149636175C>T (hg19) ; chr5:g.150256612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150256612C>T , CM000667.2:g.150256612C>T	GRCh38
NC_000005.9:g.149636175C>T , CM000667.1:g.149636175C>T	GRCh37
NC_000005.8:g.149616368C>T	NCBI36
NG_047040.1:g.38229G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348628.11:c.372G>A	ENSP00000261793.8:p.Leu124=
ENST00000515758.2:n.536G>A
ENST00000672404.2:n.536G>A
ENST00000682786.1:c.372G>A	ENSP00000507199.1:p.Leu124=
ENST00000683115.1:n.536G>A
ENST00000683332.1:c.312G>A	ENSP00000507006.1:p.Leu104=
ENST00000683506.1:c.372G>A	ENSP00000508302.1:p.Leu124=
ENST00000684093.1:n.530G>A
ENST00000684465.1:n.472G>A
ENST00000398376.8:c.372G>A	ENSP00000381412.4:p.Leu124=
ENST00000510347.2:c.372G>A	ENSP00000426607.2:p.Leu124=
ENST00000671881.1:c.372G>A MANE Select	ENSP00000500386.1:p.Leu124=
ENST00000672089.1:c.372G>A	ENSP00000500700.1:p.Leu124=
ENST00000672396.1:c.372G>A	ENSP00000499987.1:p.Leu124=
ENST00000672404.1:c.217G>A
ENST00000672479.1:c.372G>A	ENSP00000500642.1:p.Leu124=
ENST00000672752.1:c.372G>A	ENSP00000499939.1:p.Leu124=
ENST00000672785.1:c.372G>A	ENSP00000500496.1:p.Leu124=
ENST00000672829.1:c.372G>A	ENSP00000500613.1:p.Leu124=
ENST00000348628.10:c.372G>A	ENSP00000261793.8:p.Leu124=
ENST00000398376.7:c.372G>A	ENSP00000381412.3:p.Leu124=
ENST00000508662.5:n.460G>A
ENST00000515758.1:c.-13G>A	ENSP00000427580.1:n.-13G>A
NM_015981.3:c.372G>A	NP_057065.2:p.Leu124=
NM_171825.2:c.372G>A	NP_741960.1:p.Leu124=
NM_001363989.1:c.372G>A	NP_001350918.1:p.Leu124=
NM_001363990.1:c.372G>A	NP_001350919.1:p.Leu124=
XM_017009898.2:c.372G>A	XP_016865387.1:p.Leu124=
NM_001369025.2:c.372G>A	NP_001355954.1:p.Leu124=
NM_015981.4:c.372G>A MANE Select	NP_057065.2:p.Leu124=
NM_171825.3:c.372G>A	NP_741960.1:p.Leu124=