Canonical Allele Identifier: CA504984351
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1347518272
gnomAD v2: 19-4090686-C-A
gnomAD v4: 19-4090688-C-A
MyVariant Identifiers: chr19:g.4090686C>A (hg19) chr19:g.4090688C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090688C>A , CM000681.2:g.4090688C>A GRCh38
NC_000019.9:g.4090686C>A , CM000681.1:g.4090686C>A GRCh37
NC_000019.8:g.4041686C>A NCBI36
NG_007996.1:g.38441G>T , LRG_750:g.38441G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1552G>T
ENST00000688002.1:n.3264G>T
ENST00000688751.1:n.249G>T
ENST00000689792.1:n.1017G>T
ENST00000262948.10:c.1113G>T MANE Select ENSP00000262948.4:p.Arg371=
ENST00000262948.9:c.1113G>T ENSP00000262948.3:p.Arg371=
ENST00000394867.8:c.822G>T ENSP00000378336.1:p.Arg274=
ENST00000597263.5:n.298G>T
ENST00000599021.1:c.223G>T
ENST00000600584.5:n.2562G>T
ENST00000601786.5:n.1414G>T
NM_030662.3:c.1113G>T , LRG_750t1:c.1113G>T NP_109587.1:p.Arg371=
XM_006722799.2:c.834G>T XP_006722862.1:p.Arg278=
XM_011528133.1:c.543G>T XP_011526435.1:p.Arg181=
NM_030662.4:c.1113G>T MANE Select NP_109587.1:p.Arg371=
Search 100 bp 5'
Search 100 bp 3'