Canonical Allele Identifier: CA2813356114
Gene: MAP2K2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090400C>A , CM000681.2:g.4090400C>A GRCh38
NC_000019.9:g.4090398C>A , CM000681.1:g.4090398C>A GRCh37
NC_000019.8:g.4041398C>A NCBI36
NG_007996.1:g.38729G>T , LRG_750:g.38729G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1840G>T
ENST00000688751.1:n.537G>T
ENST00000689792.1:n.1305G>T
ENST00000262948.10:c.*198G>T MANE Select ENSP00000262948.4:n.*198G>T
ENST00000262948.9:c.*198G>T ENSP00000262948.3:n.*198G>T
ENST00000394867.8:c.*198G>T ENSP00000378336.1:n.*198G>T
ENST00000600584.5:n.2850G>T
ENST00000601786.5:n.1702G>T
NM_030662.3:c.*198G>T , LRG_750t1:c.*198G>T NP_109587.1:n.*198G>T
XM_006722799.2:c.*198G>T XP_006722862.1:n.*198G>T
XM_011528133.1:c.*198G>T XP_011526435.1:n.*198G>T
NM_030662.4:c.*198G>T MANE Select NP_109587.1:n.*198G>T
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