Canonical Allele Identifier: CA304448293
Community Standard Title: NM_030662.4(MAP2K2):c.951C>T (p.Ala317=)
Gene: MAP2K2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4097312G>A , CM000681.2:g.4097312G>A GRCh38
NC_000019.9:g.4097310G>A , CM000681.1:g.4097310G>A GRCh37
NC_000019.8:g.4048310G>A NCBI36
NG_007996.1:g.31817C>T , LRG_750:g.31817C>T

Transcript Alleles

HGVS Amino-acid Change
NM_030662.4:c.951C>T MANE Select NP_109587.1:p.Ala317=
ENST00000262948.10:c.951C>T MANE Select ENSP00000262948.4:p.Ala317=
NM_030662.3:c.951C>T , LRG_750t1:c.951C>T NP_109587.1:p.Ala317=
ENST00000262948.9:c.951C>T ENSP00000262948.3:p.Ala317=
ENST00000394867.8:c.660C>T ENSP00000378336.1:p.Ala220=
ENST00000394867.9:n.1390C>T
ENST00000595715.1:n.766C>T
ENST00000597263.5:n.170-1863C>T
ENST00000599021.1:c.61C>T
ENST00000600584.5:n.1511C>T
ENST00000601786.5:n.1252C>T
ENST00000687128.1:n.2201C>T
ENST00000688002.1:n.3102C>T
ENST00000689792.1:n.855C>T
XM_006722799.2:c.706-1863C>T XP_006722862.1:n.706-1863C>T
XM_011528133.1:c.381C>T XP_011526435.1:p.Ala127=
XM_017026989.1:c.951C>T XP_016882478.1:p.Ala317=
XM_017026990.1:c.706-1863C>T XP_016882479.1:n.706-1863C>T