Canonical Allele Identifier: CA403381218
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090701-G-A
MyVariant Identifiers: chr19:g.4090699G>A (hg19) chr19:g.4090701G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1539C>T
ENST00000688002.1:n.3251C>T
ENST00000688751.1:n.236C>T
ENST00000689792.1:n.1004C>T
ENST00000262948.10:c.1100C>T MANE Select ENSP00000262948.4:p.Thr367Ile
ENST00000262948.9:c.1100C>T ENSP00000262948.3:p.Thr367Ile
ENST00000394867.8:c.809C>T ENSP00000378336.1:p.Thr270Ile
ENST00000597263.5:n.285C>T
ENST00000599021.1:c.210C>T
ENST00000600584.5:n.2549C>T
ENST00000601786.5:n.1401C>T
NM_030662.3:c.1100C>T , LRG_750t1:c.1100C>T NP_109587.1:p.Thr367Ile
XM_006722799.2:c.821C>T XP_006722862.1:p.Thr274Ile
XM_011528133.1:c.530C>T XP_011526435.1:p.Thr177Ile
NM_030662.4:c.1100C>T MANE Select NP_109587.1:p.Thr367Ile
Search 100 bp 5'
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