Canonical Allele Identifier: CA2584876473
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090412-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090412C>T , CM000681.2:g.4090412C>T GRCh38
NC_000019.9:g.4090410C>T , CM000681.1:g.4090410C>T GRCh37
NC_000019.8:g.4041410C>T NCBI36
NG_007996.1:g.38717G>A , LRG_750:g.38717G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1828G>A
ENST00000688751.1:n.525G>A
ENST00000689792.1:n.1293G>A
ENST00000262948.10:c.*186G>A MANE Select ENSP00000262948.4:n.*186G>A
ENST00000262948.9:c.*186G>A ENSP00000262948.3:n.*186G>A
ENST00000394867.8:c.*186G>A ENSP00000378336.1:n.*186G>A
ENST00000600584.5:n.2838G>A
ENST00000601786.5:n.1690G>A
NM_030662.3:c.*186G>A , LRG_750t1:c.*186G>A NP_109587.1:n.*186G>A
XM_006722799.2:c.*186G>A XP_006722862.1:n.*186G>A
XM_011528133.1:c.*186G>A XP_011526435.1:n.*186G>A
NM_030662.4:c.*186G>A MANE Select NP_109587.1:n.*186G>A
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