Canonical Allele Identifier: CA2584876414
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090345-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090345T>G , CM000681.2:g.4090345T>G GRCh38
NC_000019.9:g.4090343T>G , CM000681.1:g.4090343T>G GRCh37
NC_000019.8:g.4041343T>G NCBI36
NG_007996.1:g.38784A>C , LRG_750:g.38784A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1895A>C
ENST00000688751.1:n.592A>C
ENST00000689792.1:n.1360A>C
ENST00000262948.10:c.*253A>C MANE Select ENSP00000262948.4:n.*253A>C
ENST00000262948.9:c.*253A>C ENSP00000262948.3:n.*253A>C
ENST00000394867.8:c.*253A>C ENSP00000378336.1:n.*253A>C
ENST00000600584.5:n.2905A>C
ENST00000601786.5:n.1757A>C
NM_030662.3:c.*253A>C , LRG_750t1:c.*253A>C NP_109587.1:n.*253A>C
XM_006722799.2:c.*253A>C XP_006722862.1:n.*253A>C
XM_011528133.1:c.*253A>C XP_011526435.1:n.*253A>C
NM_030662.4:c.*253A>C MANE Select NP_109587.1:n.*253A>C
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