Canonical Allele Identifier: CA403382420

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 3021502
• ClinVar RCV Id: RCV003875125
• gnomAD v4: 19-4094455-T-C
• MyVariant Identifiers: chr19:g.4094453T>C (hg19) ; chr19:g.4094455T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094455T>C , CM000681.2:g.4094455T>C	GRCh38
NC_000019.9:g.4094453T>C , CM000681.1:g.4094453T>C	GRCh37
NC_000019.8:g.4045453T>C	NCBI36
NG_007996.1:g.34674A>G , LRG_750:g.34674A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1529A>G
ENST00000688002.1:n.3241A>G
ENST00000688751.1:n.226A>G
ENST00000689792.1:n.994A>G
ENST00000262948.10:c.1090A>G MANE Select	ENSP00000262948.4:p.Thr364Ala
ENST00000262948.9:c.1090A>G	ENSP00000262948.3:p.Thr364Ala
ENST00000394867.8:c.799A>G	ENSP00000378336.1:p.Thr267Ala
ENST00000597263.5:n.275A>G
ENST00000599021.1:c.200A>G
ENST00000600584.5:n.2539A>G
ENST00000601786.5:n.1391A>G
NM_030662.3:c.1090A>G , LRG_750t1:c.1090A>G	NP_109587.1:p.Thr364Ala
XM_006722799.2:c.811A>G	XP_006722862.1:p.Thr271Ala
XM_011528133.1:c.520A>G	XP_011526435.1:p.Thr174Ala
NM_030662.4:c.1090A>G MANE Select	NP_109587.1:p.Thr364Ala