Canonical Allele Identifier: CA403381075
Gene: MAP2K2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.4090676C>G (hg19) chr19:g.4090678C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090678C>G , CM000681.2:g.4090678C>G GRCh38
NC_000019.9:g.4090676C>G , CM000681.1:g.4090676C>G GRCh37
NC_000019.8:g.4041676C>G NCBI36
NG_007996.1:g.38451G>C , LRG_750:g.38451G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1562G>C
ENST00000688002.1:n.3274G>C
ENST00000688751.1:n.259G>C
ENST00000689792.1:n.1027G>C
ENST00000262948.10:c.1123G>C MANE Select ENSP00000262948.4:p.Glu375Gln
ENST00000262948.9:c.1123G>C ENSP00000262948.3:p.Glu375Gln
ENST00000394867.8:c.832G>C ENSP00000378336.1:p.Glu278Gln
ENST00000597263.5:n.308G>C
ENST00000599021.1:c.233G>C
ENST00000600584.5:n.2572G>C
ENST00000601786.5:n.1424G>C
NM_030662.3:c.1123G>C , LRG_750t1:c.1123G>C NP_109587.1:p.Glu375Gln
XM_006722799.2:c.844G>C XP_006722862.1:p.Glu282Gln
XM_011528133.1:c.553G>C XP_011526435.1:p.Glu185Gln
NM_030662.4:c.1123G>C MANE Select NP_109587.1:p.Glu375Gln
Search 100 bp 5'
Search 100 bp 3'