Canonical Allele Identifier: CA2584876881
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4094402-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094402T>A , CM000681.2:g.4094402T>A GRCh38
NC_000019.9:g.4094400T>A , CM000681.1:g.4094400T>A GRCh37
NC_000019.8:g.4045400T>A NCBI36
NG_007996.1:g.34727A>T , LRG_750:g.34727A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1531+51A>T
ENST00000688002.1:n.3243+51A>T
ENST00000688751.1:n.228+51A>T
ENST00000689792.1:n.996+51A>T
ENST00000262948.10:c.1092+51A>T MANE Select ENSP00000262948.4:n.1092+51A>T
ENST00000262948.9:c.1092+51A>T ENSP00000262948.3:n.1092+51A>T
ENST00000394867.8:c.801+51A>T ENSP00000378336.1:n.801+51A>T
ENST00000597263.5:n.277+51A>T
ENST00000599021.1:c.202+51A>T
ENST00000600584.5:n.2541+51A>T
ENST00000601786.5:n.1393+51A>T
NM_030662.3:c.1092+51A>T , LRG_750t1:c.1092+51A>T NP_109587.1:n.1092+51A>T
XM_006722799.2:c.813+51A>T XP_006722862.1:n.813+51A>T
XM_011528133.1:c.522+51A>T XP_011526435.1:n.522+51A>T
NM_030662.4:c.1092+51A>T MANE Select NP_109587.1:n.1092+51A>T