Canonical Allele Identifier: CA2584876488
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090422-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090422A>G , CM000681.2:g.4090422A>G GRCh38
NC_000019.9:g.4090420A>G , CM000681.1:g.4090420A>G GRCh37
NC_000019.8:g.4041420A>G NCBI36
NG_007996.1:g.38707T>C , LRG_750:g.38707T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1818T>C
ENST00000688751.1:n.515T>C
ENST00000689792.1:n.1283T>C
ENST00000262948.10:c.*176T>C MANE Select ENSP00000262948.4:n.*176T>C
ENST00000262948.9:c.*176T>C ENSP00000262948.3:n.*176T>C
ENST00000394867.8:c.*176T>C ENSP00000378336.1:n.*176T>C
ENST00000600584.5:n.2828T>C
ENST00000601786.5:n.1680T>C
NM_030662.3:c.*176T>C , LRG_750t1:c.*176T>C NP_109587.1:n.*176T>C
XM_006722799.2:c.*176T>C XP_006722862.1:n.*176T>C
XM_011528133.1:c.*176T>C XP_011526435.1:n.*176T>C
NM_030662.4:c.*176T>C MANE Select NP_109587.1:n.*176T>C
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