Canonical Allele Identifier: CA2584876825
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4094329-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094329C>T , CM000681.2:g.4094329C>T GRCh38
NC_000019.9:g.4094327C>T , CM000681.1:g.4094327C>T GRCh37
NC_000019.8:g.4045327C>T NCBI36
NG_007996.1:g.34800G>A , LRG_750:g.34800G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1531+124G>A
ENST00000688002.1:n.3243+124G>A
ENST00000688751.1:n.228+124G>A
ENST00000689792.1:n.996+124G>A
ENST00000262948.10:c.1092+124G>A MANE Select ENSP00000262948.4:n.1092+124G>A
ENST00000262948.9:c.1092+124G>A ENSP00000262948.3:n.1092+124G>A
ENST00000394867.8:c.801+124G>A ENSP00000378336.1:n.801+124G>A
ENST00000597263.5:n.277+124G>A
ENST00000599021.1:c.202+124G>A
ENST00000600584.5:n.2541+124G>A
ENST00000601786.5:n.1393+124G>A
NM_030662.3:c.1092+124G>A , LRG_750t1:c.1092+124G>A NP_109587.1:n.1092+124G>A
XM_006722799.2:c.813+124G>A XP_006722862.1:n.813+124G>A
XM_011528133.1:c.522+124G>A XP_011526435.1:n.522+124G>A
NM_030662.4:c.1092+124G>A MANE Select NP_109587.1:n.1092+124G>A