Canonical Allele Identifier: CA403380818
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090635-A-G
MyVariant Identifiers: chr19:g.4090633A>G (hg19) chr19:g.4090635A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090635A>G , CM000681.2:g.4090635A>G GRCh38
NC_000019.9:g.4090633A>G , CM000681.1:g.4090633A>G GRCh37
NC_000019.8:g.4041633A>G NCBI36
NG_007996.1:g.38494T>C , LRG_750:g.38494T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1605T>C
ENST00000688002.1:n.3317T>C
ENST00000688751.1:n.302T>C
ENST00000689792.1:n.1070T>C
ENST00000262948.10:c.1166T>C MANE Select ENSP00000262948.4:p.Leu389Pro
ENST00000262948.9:c.1166T>C ENSP00000262948.3:p.Leu389Pro
ENST00000394867.8:c.875T>C ENSP00000378336.1:p.Leu292Pro
ENST00000597263.5:n.351T>C
ENST00000599021.1:c.276T>C
ENST00000600584.5:n.2615T>C
ENST00000601786.5:n.1467T>C
NM_030662.3:c.1166T>C , LRG_750t1:c.1166T>C NP_109587.1:p.Leu389Pro
XM_006722799.2:c.887T>C XP_006722862.1:p.Leu296Pro
XM_011528133.1:c.596T>C XP_011526435.1:p.Leu199Pro
NM_030662.4:c.1166T>C MANE Select NP_109587.1:p.Leu389Pro
Search 100 bp 5'
Search 100 bp 3'