Canonical Allele Identifier: CA2576573180
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4094415-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094415G>A , CM000681.2:g.4094415G>A GRCh38
NC_000019.9:g.4094413G>A , CM000681.1:g.4094413G>A GRCh37
NC_000019.8:g.4045413G>A NCBI36
NG_007996.1:g.34714C>T , LRG_750:g.34714C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1531+38C>T
ENST00000688002.1:n.3243+38C>T
ENST00000688751.1:n.228+38C>T
ENST00000689792.1:n.996+38C>T
ENST00000262948.10:c.1092+38C>T MANE Select ENSP00000262948.4:n.1092+38C>T
ENST00000262948.9:c.1092+38C>T ENSP00000262948.3:n.1092+38C>T
ENST00000394867.8:c.801+38C>T ENSP00000378336.1:n.801+38C>T
ENST00000597263.5:n.277+38C>T
ENST00000599021.1:c.202+38C>T
ENST00000600584.5:n.2541+38C>T
ENST00000601786.5:n.1393+38C>T
NM_030662.3:c.1092+38C>T , LRG_750t1:c.1092+38C>T NP_109587.1:n.1092+38C>T
XM_006722799.2:c.813+38C>T XP_006722862.1:n.813+38C>T
XM_011528133.1:c.522+38C>T XP_011526435.1:n.522+38C>T
NM_030662.4:c.1092+38C>T MANE Select NP_109587.1:n.1092+38C>T