Canonical Allele Identifier: CA2584876617
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090539-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090539G>T , CM000681.2:g.4090539G>T GRCh38
NC_000019.9:g.4090537G>T , CM000681.1:g.4090537G>T GRCh37
NC_000019.8:g.4041537G>T NCBI36
NG_007996.1:g.38590C>A , LRG_750:g.38590C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1701C>A
ENST00000688002.1:n.3413C>A
ENST00000688751.1:n.398C>A
ENST00000689792.1:n.1166C>A
ENST00000262948.10:c.*59C>A MANE Select ENSP00000262948.4:n.*59C>A
ENST00000262948.9:c.*59C>A ENSP00000262948.3:n.*59C>A
ENST00000394867.8:c.*59C>A ENSP00000378336.1:n.*59C>A
ENST00000597263.5:n.447C>A
ENST00000600584.5:n.2711C>A
ENST00000601786.5:n.1563C>A
NM_030662.3:c.*59C>A , LRG_750t1:c.*59C>A NP_109587.1:n.*59C>A
XM_006722799.2:c.*59C>A XP_006722862.1:n.*59C>A
XM_011528133.1:c.*59C>A XP_011526435.1:n.*59C>A
NM_030662.4:c.*59C>A MANE Select NP_109587.1:n.*59C>A