Canonical Allele Identifier: CA454607715

Gene: CAMK2B

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44220104C>G , CM000669.2:g.44220104C>G	GRCh38
NC_000007.13:g.44259703C>G , CM000669.1:g.44259703C>G	GRCh37
NC_000007.12:g.44226228C>G	NCBI36
NG_029407.1:g.110528G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001220.5:c.1959G>C MANE Select	NP_001211.3:p.Val653=
ENST00000395749.7:c.1959G>C MANE Select	ENSP00000379098.2:p.Val653=
NM_001220.4:c.1959G>C	NP_001211.3:p.Val653=
NM_001293170.1:c.1587G>C	NP_001280099.1:p.Val529=
NM_001293170.2:c.1587G>C	NP_001280099.1:p.Val529=
NM_172078.2:c.1587G>C	NP_742075.1:p.Val529=
NM_172078.3:c.1587G>C	NP_742075.1:p.Val529=
NM_172079.2:c.1515G>C	NP_742076.1:p.Val505=
NM_172079.3:c.1515G>C	NP_742076.1:p.Val505=
NM_172080.2:c.1512G>C	NP_742077.1:p.Val504=
NM_172080.3:c.1512G>C	NP_742077.1:p.Val504=
NM_172081.2:c.1470G>C	NP_742078.1:p.Val490=
NM_172081.3:c.1470G>C	NP_742078.1:p.Val490=
NM_172082.2:c.1437G>C	NP_742079.1:p.Val479=
NM_172082.3:c.1437G>C	NP_742079.1:p.Val479=
NM_172083.2:c.1398G>C	NP_742080.1:p.Val466=
NM_172083.3:c.1398G>C	NP_742080.1:p.Val466=
NM_172084.2:c.1308G>C	NP_742081.1:p.Val436=
NM_172084.3:c.1308G>C	NP_742081.1:p.Val436=
ENST00000258682.10:c.1512G>C	ENSP00000258682.6:p.Val504=
ENST00000346990.8:c.1308G>C	ENSP00000326518.5:p.Val436=
ENST00000347193.8:c.1437G>C	ENSP00000326544.6:p.Val479=
ENST00000350811.7:c.1587G>C	ENSP00000326375.5:p.Val529=
ENST00000353185.7:c.*380G>C	ENSP00000326600.4:n.*380G>C
ENST00000353625.8:c.1398G>C	ENSP00000326427.5:p.Val466=
ENST00000358707.7:c.1470G>C	ENSP00000351542.3:p.Val490=
ENST00000395747.6:c.1515G>C	ENSP00000379096.2:p.Val505=
ENST00000395749.6:c.1959G>C	ENSP00000379098.2:p.Val653=
ENST00000425809.5:c.513G>C	ENSP00000410445.1:p.Val171=
ENST00000440254.6:c.1587G>C	ENSP00000397937.2:p.Val529=
ENST00000457475.5:c.1515G>C	ENSP00000390292.1:p.Val505=
ENST00000466584.5:n.414G>C
ENST00000470984.6:c.1200G>C	ENSP00000514879.1:p.Val400=
ENST00000484972.6:n.1660G>C
ENST00000489429.5:n.2043G>C
ENST00000497584.5:n.1838G>C
ENST00000523845.5:c.*1242G>C	ENSP00000428912.1:n.*1242G>C
ENST00000700233.1:c.1509G>C	ENSP00000514871.1:p.Val503=
ENST00000700234.1:c.570G>C
ENST00000700235.1:c.1644G>C	ENSP00000514874.1:p.Val548=
ENST00000700236.1:c.960G>C
ENST00000700237.1:c.1200G>C	ENSP00000514876.1:p.Val400=
ENST00000700238.1:c.1128G>C	ENSP00000514877.1:p.Val376=
ENST00000700239.1:c.1456G>C
ENST00000700240.1:c.1155G>C	ENSP00000514880.1:p.Val385=
ENST00000700241.1:c.1589G>C
ENST00000700283.1:c.1469G>C
ENST00000700284.1:c.*1816G>C	ENSP00000514917.1:n.*1816G>C
ENST00000700285.1:c.1587G>C	ENSP00000514918.1:p.Val529=
ENST00000700286.1:n.2088G>C
ENST00000700287.1:c.1600G>C
ENST00000700290.1:c.1125G>C	ENSP00000514921.1:p.Val375=
ENST00000700291.1:c.1384G>C	ENSP00000514922.1:n.1384G>C
XM_005249862.3:c.1542G>C	XP_005249919.1:p.Val514=
XM_005249864.3:c.1443G>C	XP_005249921.1:p.Val481=
XM_006715781.2:c.1839G>C	XP_006715844.1:p.Val613=
XM_006715784.2:c.1515G>C	XP_006715847.1:p.Val505=
XM_011515547.1:c.2088G>C	XP_011513849.1:p.Val696=
XM_011515548.1:c.2088G>C	XP_011513850.1:p.Val696=
XM_011515549.1:c.2043G>C	XP_011513851.1:p.Val681=
XM_011515550.1:c.2016G>C	XP_011513852.1:p.Val672=
XM_011515551.1:c.2016G>C	XP_011513853.1:p.Val672=
XM_011515552.1:c.2013G>C	XP_011513854.1:p.Val671=
XM_011515553.1:c.1974G>C	XP_011513855.1:p.Val658=
XM_011515554.1:c.1968G>C	XP_011513856.1:p.Val656=
XM_011515555.1:c.1959G>C	XP_011513857.1:p.Val653=
XM_011515556.1:c.1944G>C	XP_011513858.1:p.Val648=
XM_011515557.1:c.1941G>C	XP_011513859.1:p.Val647=
XM_011515559.1:c.1701G>C	XP_011513861.1:p.Val567=
XM_011515559.2:c.1701G>C	XP_011513861.1:p.Val567=
XM_011515560.1:c.1701G>C	XP_011513862.1:p.Val567=
XM_017012660.1:c.1971G>C	XP_016868149.1:p.Val657=
XM_017012661.1:c.1929G>C	XP_016868150.1:p.Val643=
XM_017012662.1:c.1770G>C	XP_016868151.1:p.Val590=
XM_017012663.2:c.1629G>C	XP_016868152.1:p.Val543=
XM_017012664.1:c.1467G>C	XP_016868153.1:p.Val489=
XM_017012665.1:c.1440G>C	XP_016868154.1:p.Val480=
XM_017012666.2:c.1200G>C	XP_016868155.1:p.Val400=
XM_017012667.2:c.1155G>C	XP_016868156.1:p.Val385=
XM_017012668.2:c.1128G>C	XP_016868157.1:p.Val376=
XM_017012669.2:c.1128G>C	XP_016868158.1:p.Val376=
XM_017012670.2:c.1083G>C	XP_016868159.1:p.Val361=
XM_024446945.1:c.1845G>C	XP_024302713.1:p.Val615=
XM_024446946.1:c.1125G>C	XP_024302714.1:p.Val375=