Canonical Allele Identifier: CA403380745
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090626-G-T
MyVariant Identifiers: chr19:g.4090624G>T (hg19) chr19:g.4090626G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090626G>T , CM000681.2:g.4090626G>T GRCh38
NC_000019.9:g.4090624G>T , CM000681.1:g.4090624G>T GRCh37
NC_000019.8:g.4041624G>T NCBI36
NG_007996.1:g.38503C>A , LRG_750:g.38503C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1614C>A
ENST00000688002.1:n.3326C>A
ENST00000688751.1:n.311C>A
ENST00000689792.1:n.1079C>A
ENST00000262948.10:c.1175C>A MANE Select ENSP00000262948.4:p.Pro392His
ENST00000262948.9:c.1175C>A ENSP00000262948.3:p.Pro392His
ENST00000394867.8:c.884C>A ENSP00000378336.1:p.Pro295His
ENST00000597263.5:n.360C>A
ENST00000599021.1:c.285C>A
ENST00000600584.5:n.2624C>A
ENST00000601786.5:n.1476C>A
NM_030662.3:c.1175C>A , LRG_750t1:c.1175C>A NP_109587.1:p.Pro392His
XM_006722799.2:c.896C>A XP_006722862.1:p.Pro299His
XM_011528133.1:c.605C>A XP_011526435.1:p.Pro202His
NM_030662.4:c.1175C>A MANE Select NP_109587.1:p.Pro392His
Search 100 bp 5'
Search 100 bp 3'