Canonical Allele Identifier: CA403381223
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1504208
ClinVar RCV Id: RCV002047740
dbSNP Id: rs2145036668
gnomAD v4: 19-4090701-G-T
MyVariant Identifiers: chr19:g.4090699G>T (hg19) chr19:g.4090701G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090701G>T , CM000681.2:g.4090701G>T GRCh38
NC_000019.9:g.4090699G>T , CM000681.1:g.4090699G>T GRCh37
NC_000019.8:g.4041699G>T NCBI36
NG_007996.1:g.38428C>A , LRG_750:g.38428C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1539C>A
ENST00000688002.1:n.3251C>A
ENST00000688751.1:n.236C>A
ENST00000689792.1:n.1004C>A
ENST00000262948.10:c.1100C>A MANE Select ENSP00000262948.4:p.Thr367Asn
ENST00000262948.9:c.1100C>A ENSP00000262948.3:p.Thr367Asn
ENST00000394867.8:c.809C>A ENSP00000378336.1:p.Thr270Asn
ENST00000597263.5:n.285C>A
ENST00000599021.1:c.210C>A
ENST00000600584.5:n.2549C>A
ENST00000601786.5:n.1401C>A
NM_030662.3:c.1100C>A , LRG_750t1:c.1100C>A NP_109587.1:p.Thr367Asn
XM_006722799.2:c.821C>A XP_006722862.1:p.Thr274Asn
XM_011528133.1:c.530C>A XP_011526435.1:p.Thr177Asn
NM_030662.4:c.1100C>A MANE Select NP_109587.1:p.Thr367Asn
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