Canonical Allele Identifier: CA403380791
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090631-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090631G>T , CM000681.2:g.4090631G>T GRCh38
NC_000019.9:g.4090629G>T , CM000681.1:g.4090629G>T GRCh37
NC_000019.8:g.4041629G>T NCBI36
NG_007996.1:g.38498C>A , LRG_750:g.38498C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1609C>A
ENST00000688002.1:n.3321C>A
ENST00000688751.1:n.306C>A
ENST00000689792.1:n.1074C>A
ENST00000262948.10:c.1170C>A MANE Select ENSP00000262948.4:p.Asn390Lys
ENST00000262948.9:c.1170C>A ENSP00000262948.3:p.Asn390Lys
ENST00000394867.8:c.879C>A ENSP00000378336.1:p.Asn293Lys
ENST00000597263.5:n.355C>A
ENST00000599021.1:c.280C>A
ENST00000600584.5:n.2619C>A
ENST00000601786.5:n.1471C>A
NM_030662.3:c.1170C>A , LRG_750t1:c.1170C>A NP_109587.1:p.Asn390Lys
XM_006722799.2:c.891C>A XP_006722862.1:p.Asn297Lys
XM_011528133.1:c.600C>A XP_011526435.1:p.Asn200Lys
NM_030662.4:c.1170C>A MANE Select NP_109587.1:p.Asn390Lys