Canonical Allele Identifier: CA2584876573
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090504-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090504G>T , CM000681.2:g.4090504G>T GRCh38
NC_000019.9:g.4090502G>T , CM000681.1:g.4090502G>T GRCh37
NC_000019.8:g.4041502G>T NCBI36
NG_007996.1:g.38625C>A , LRG_750:g.38625C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.1736C>A
ENST00000688002.1:n.3448C>A
ENST00000688751.1:n.433C>A
ENST00000689792.1:n.1201C>A
ENST00000262948.10:c.*94C>A MANE Select ENSP00000262948.4:n.*94C>A
ENST00000262948.9:c.*94C>A ENSP00000262948.3:n.*94C>A
ENST00000394867.8:c.*94C>A ENSP00000378336.1:n.*94C>A
ENST00000597263.5:n.482C>A
ENST00000600584.5:n.2746C>A
ENST00000601786.5:n.1598C>A
NM_030662.3:c.*94C>A , LRG_750t1:c.*94C>A NP_109587.1:n.*94C>A
XM_006722799.2:c.*94C>A XP_006722862.1:n.*94C>A
XM_011528133.1:c.*94C>A XP_011526435.1:n.*94C>A
NM_030662.4:c.*94C>A MANE Select NP_109587.1:n.*94C>A