Canonical Allele Identifier: CA403380933
Gene: MAP2K2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090653A>C , CM000681.2:g.4090653A>C GRCh38
NC_000019.9:g.4090651A>C , CM000681.1:g.4090651A>C GRCh37
NC_000019.8:g.4041651A>C NCBI36
NG_007996.1:g.38476T>G , LRG_750:g.38476T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1587T>G
ENST00000688002.1:n.3299T>G
ENST00000688751.1:n.284T>G
ENST00000689792.1:n.1052T>G
ENST00000262948.10:c.1148T>G MANE Select ENSP00000262948.4:p.Leu383Trp
ENST00000262948.9:c.1148T>G ENSP00000262948.3:p.Leu383Trp
ENST00000394867.8:c.857T>G ENSP00000378336.1:p.Leu286Trp
ENST00000597263.5:n.333T>G
ENST00000599021.1:c.258T>G
ENST00000600584.5:n.2597T>G
ENST00000601786.5:n.1449T>G
NM_030662.3:c.1148T>G , LRG_750t1:c.1148T>G NP_109587.1:p.Leu383Trp
XM_006722799.2:c.869T>G XP_006722862.1:p.Leu290Trp
XM_011528133.1:c.578T>G XP_011526435.1:p.Leu193Trp
NM_030662.4:c.1148T>G MANE Select NP_109587.1:p.Leu383Trp