Canonical Allele Identifier: CA2584876808
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4094314-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094314G>T , CM000681.2:g.4094314G>T GRCh38
NC_000019.9:g.4094312G>T , CM000681.1:g.4094312G>T GRCh37
NC_000019.8:g.4045312G>T NCBI36
NG_007996.1:g.34815C>A , LRG_750:g.34815C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1531+139C>A
ENST00000688002.1:n.3243+139C>A
ENST00000688751.1:n.228+139C>A
ENST00000689792.1:n.996+139C>A
ENST00000262948.10:c.1092+139C>A MANE Select ENSP00000262948.4:n.1092+139C>A
ENST00000262948.9:c.1092+139C>A ENSP00000262948.3:n.1092+139C>A
ENST00000394867.8:c.801+139C>A ENSP00000378336.1:n.801+139C>A
ENST00000597263.5:n.277+139C>A
ENST00000599021.1:c.202+139C>A
ENST00000600584.5:n.2541+139C>A
ENST00000601786.5:n.1393+139C>A
NM_030662.3:c.1092+139C>A , LRG_750t1:c.1092+139C>A NP_109587.1:n.1092+139C>A
XM_006722799.2:c.813+139C>A XP_006722862.1:n.813+139C>A
XM_011528133.1:c.522+139C>A XP_011526435.1:n.522+139C>A
NM_030662.4:c.1092+139C>A MANE Select NP_109587.1:n.1092+139C>A