Canonical Allele Identifier: CA304445716
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs867823488
gnomAD v4: 19-4090663-C-A
MyVariant Identifiers: chr19:g.4090661C>A (hg19) chr19:g.4090663C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090663C>A , CM000681.2:g.4090663C>A GRCh38
NC_000019.9:g.4090661C>A , CM000681.1:g.4090661C>A GRCh37
NC_000019.8:g.4041661C>A NCBI36
NG_007996.1:g.38466G>T , LRG_750:g.38466G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1577G>T
ENST00000688002.1:n.3289G>T
ENST00000688751.1:n.274G>T
ENST00000689792.1:n.1042G>T
ENST00000262948.10:c.1138G>T MANE Select ENSP00000262948.4:p.Ala380Ser
ENST00000262948.9:c.1138G>T ENSP00000262948.3:p.Ala380Ser
ENST00000394867.8:c.847G>T ENSP00000378336.1:p.Ala283Ser
ENST00000597263.5:n.323G>T
ENST00000599021.1:c.248G>T
ENST00000600584.5:n.2587G>T
ENST00000601786.5:n.1439G>T
NM_030662.3:c.1138G>T , LRG_750t1:c.1138G>T NP_109587.1:p.Ala380Ser
XM_006722799.2:c.859G>T XP_006722862.1:p.Ala287Ser
XM_011528133.1:c.568G>T XP_011526435.1:p.Ala190Ser
NM_030662.4:c.1138G>T MANE Select NP_109587.1:p.Ala380Ser
Search 100 bp 5'
Search 100 bp 3'