Canonical Allele Identifier: CA2584877980
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4095574-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4095574C>A , CM000681.2:g.4095574C>A GRCh38
NC_000019.9:g.4095572C>A , CM000681.1:g.4095572C>A GRCh37
NC_000019.8:g.4046572C>A NCBI36
NG_007996.1:g.33555G>T , LRG_750:g.33555G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1424-125G>T
ENST00000688002.1:n.3136-125G>T
ENST00000688751.1:n.121-125G>T
ENST00000689792.1:n.889-125G>T
ENST00000262948.10:c.985-125G>T MANE Select ENSP00000262948.4:n.985-125G>T
ENST00000262948.9:c.985-125G>T ENSP00000262948.3:n.985-125G>T
ENST00000394867.8:c.694-125G>T ENSP00000378336.1:n.694-125G>T
ENST00000595715.1:n.800-125G>T
ENST00000597263.5:n.170-125G>T
ENST00000599021.1:c.95-125G>T
ENST00000600584.5:n.1545-125G>T
ENST00000601786.5:n.1286-125G>T
NM_030662.3:c.985-125G>T , LRG_750t1:c.985-125G>T NP_109587.1:n.985-125G>T
XM_006722799.2:c.706-125G>T XP_006722862.1:n.706-125G>T
XM_011528133.1:c.415-125G>T XP_011526435.1:n.415-125G>T
XM_017026989.1:c.985-125G>T XP_016882478.1:n.985-125G>T
XM_017026990.1:c.706-125G>T XP_016882479.1:n.706-125G>T
NM_030662.4:c.985-125G>T MANE Select NP_109587.1:n.985-125G>T