Canonical Allele Identifier: CA403380814
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090633-T-G
MyVariant Identifiers: chr19:g.4090631T>G (hg19) chr19:g.4090633T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090633T>G , CM000681.2:g.4090633T>G GRCh38
NC_000019.9:g.4090631T>G , CM000681.1:g.4090631T>G GRCh37
NC_000019.8:g.4041631T>G NCBI36
NG_007996.1:g.38496A>C , LRG_750:g.38496A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1607A>C
ENST00000688002.1:n.3319A>C
ENST00000688751.1:n.304A>C
ENST00000689792.1:n.1072A>C
ENST00000262948.10:c.1168A>C MANE Select ENSP00000262948.4:p.Asn390His
ENST00000262948.9:c.1168A>C ENSP00000262948.3:p.Asn390His
ENST00000394867.8:c.877A>C ENSP00000378336.1:p.Asn293His
ENST00000597263.5:n.353A>C
ENST00000599021.1:c.278A>C
ENST00000600584.5:n.2617A>C
ENST00000601786.5:n.1469A>C
NM_030662.3:c.1168A>C , LRG_750t1:c.1168A>C NP_109587.1:p.Asn390His
XM_006722799.2:c.889A>C XP_006722862.1:p.Asn297His
XM_011528133.1:c.598A>C XP_011526435.1:p.Asn200His
NM_030662.4:c.1168A>C MANE Select NP_109587.1:p.Asn390His
Search 100 bp 5'
Search 100 bp 3'