Canonical Allele Identifier: CA403380865
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2898766
ClinVar RCV Id: RCV003654694
gnomAD v4: 19-4090644-G-T
MyVariant Identifiers: chr19:g.4090642G>T (hg19) chr19:g.4090644G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090644G>T , CM000681.2:g.4090644G>T GRCh38
NC_000019.9:g.4090642G>T , CM000681.1:g.4090642G>T GRCh37
NC_000019.8:g.4041642G>T NCBI36
NG_007996.1:g.38485C>A , LRG_750:g.38485C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1596C>A
ENST00000688002.1:n.3308C>A
ENST00000688751.1:n.293C>A
ENST00000689792.1:n.1061C>A
ENST00000262948.10:c.1157C>A MANE Select ENSP00000262948.4:p.Thr386Asn
ENST00000262948.9:c.1157C>A ENSP00000262948.3:p.Thr386Asn
ENST00000394867.8:c.866C>A ENSP00000378336.1:p.Thr289Asn
ENST00000597263.5:n.342C>A
ENST00000599021.1:c.267C>A
ENST00000600584.5:n.2606C>A
ENST00000601786.5:n.1458C>A
NM_030662.3:c.1157C>A , LRG_750t1:c.1157C>A NP_109587.1:p.Thr386Asn
XM_006722799.2:c.878C>A XP_006722862.1:p.Thr293Asn
XM_011528133.1:c.587C>A XP_011526435.1:p.Thr196Asn
NM_030662.4:c.1157C>A MANE Select NP_109587.1:p.Thr386Asn
Search 100 bp 5'
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