Canonical Allele Identifier: CA403380982
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs565860695
gnomAD v4: 19-4090660-C-G
MyVariant Identifiers: chr19:g.4090658C>G (hg19) chr19:g.4090660C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090660C>G , CM000681.2:g.4090660C>G GRCh38
NC_000019.9:g.4090658C>G , CM000681.1:g.4090658C>G GRCh37
NC_000019.8:g.4041658C>G NCBI36
NG_007996.1:g.38469G>C , LRG_750:g.38469G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1580G>C
ENST00000688002.1:n.3292G>C
ENST00000688751.1:n.277G>C
ENST00000689792.1:n.1045G>C
ENST00000262948.10:c.1141G>C MANE Select ENSP00000262948.4:p.Gly381Arg
ENST00000262948.9:c.1141G>C ENSP00000262948.3:p.Gly381Arg
ENST00000394867.8:c.850G>C ENSP00000378336.1:p.Gly284Arg
ENST00000597263.5:n.326G>C
ENST00000599021.1:c.251G>C
ENST00000600584.5:n.2590G>C
ENST00000601786.5:n.1442G>C
NM_030662.3:c.1141G>C , LRG_750t1:c.1141G>C NP_109587.1:p.Gly381Arg
XM_006722799.2:c.862G>C XP_006722862.1:p.Gly288Arg
XM_011528133.1:c.571G>C XP_011526435.1:p.Gly191Arg
NM_030662.4:c.1141G>C MANE Select NP_109587.1:p.Gly381Arg
Search 100 bp 5'
Search 100 bp 3'