Canonical Allele Identifier: CA9090676
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1227853
ClinVar RCV Id: RCV001611835
dbSNP Id: rs6629
ExAC: 19:4090572 G / C
gnomAD v2: 19-4090572-G-C
gnomAD v3: 19-4090574-G-C
gnomAD v4: 19-4090574-G-C
MyVariant Identifiers: chr19:g.4090572G>C (hg19) chr19:g.4090574G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090574G>C , CM000681.2:g.4090574G>C GRCh38
NC_000019.9:g.4090572G>C , CM000681.1:g.4090572G>C GRCh37
NC_000019.8:g.4041572G>C NCBI36
NG_007996.1:g.38555C>G , LRG_750:g.38555C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1666C>G
ENST00000688002.1:n.3378C>G
ENST00000688751.1:n.363C>G
ENST00000689792.1:n.1131C>G
ENST00000262948.10:c.*24C>G MANE Select ENSP00000262948.4:n.*24C>G
ENST00000262948.9:c.*24C>G ENSP00000262948.3:n.*24C>G
ENST00000394867.8:c.*24C>G ENSP00000378336.1:n.*24C>G
ENST00000597263.5:n.412C>G
ENST00000600584.5:n.2676C>G
ENST00000601786.5:n.1528C>G
NM_030662.3:c.*24C>G , LRG_750t1:c.*24C>G NP_109587.1:n.*24C>G
XM_006722799.2:c.*24C>G XP_006722862.1:n.*24C>G
XM_011528133.1:c.*24C>G XP_011526435.1:n.*24C>G
NM_030662.4:c.*24C>G MANE Select NP_109587.1:n.*24C>G
Search 100 bp 5'
Search 100 bp 3'