Canonical Allele Identifier: CA2584877086
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4094629-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094629G>A , CM000681.2:g.4094629G>A GRCh38
NC_000019.9:g.4094627G>A , CM000681.1:g.4094627G>A GRCh37
NC_000019.8:g.4045627G>A NCBI36
NG_007996.1:g.34500C>T , LRG_750:g.34500C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1486-131C>T
ENST00000688002.1:n.3198-131C>T
ENST00000688751.1:n.183-131C>T
ENST00000689792.1:n.951-131C>T
ENST00000262948.10:c.1047-131C>T MANE Select ENSP00000262948.4:n.1047-131C>T
ENST00000262948.9:c.1047-131C>T ENSP00000262948.3:n.1047-131C>T
ENST00000394867.8:c.756-131C>T ENSP00000378336.1:n.756-131C>T
ENST00000597263.5:n.232-131C>T
ENST00000599021.1:c.157-131C>T
ENST00000600584.5:n.2365C>T
ENST00000601786.5:n.1348-131C>T
NM_030662.3:c.1047-131C>T , LRG_750t1:c.1047-131C>T NP_109587.1:n.1047-131C>T
XM_006722799.2:c.768-131C>T XP_006722862.1:n.768-131C>T
XM_011528133.1:c.477-131C>T XP_011526435.1:n.477-131C>T
XM_017026989.1:c.1464C>T XP_016882478.1:p.Ala488=
XM_017026990.1:c.1185C>T XP_016882479.1:p.Ala395=
NM_030662.4:c.1047-131C>T MANE Select NP_109587.1:n.1047-131C>T