Canonical Allele Identifier: CA631537005
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1391417743
gnomAD v2: 19-4090550-G-A
gnomAD v4: 19-4090552-G-A
MyVariant Identifiers: chr19:g.4090550G>A (hg19) chr19:g.4090552G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090552G>A , CM000681.2:g.4090552G>A GRCh38
NC_000019.9:g.4090550G>A , CM000681.1:g.4090550G>A GRCh37
NC_000019.8:g.4041550G>A NCBI36
NG_007996.1:g.38577C>T , LRG_750:g.38577C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1688C>T
ENST00000688002.1:n.3400C>T
ENST00000688751.1:n.385C>T
ENST00000689792.1:n.1153C>T
ENST00000262948.10:c.*46C>T MANE Select ENSP00000262948.4:n.*46C>T
ENST00000262948.9:c.*46C>T ENSP00000262948.3:n.*46C>T
ENST00000394867.8:c.*46C>T ENSP00000378336.1:n.*46C>T
ENST00000597263.5:n.434C>T
ENST00000600584.5:n.2698C>T
ENST00000601786.5:n.1550C>T
NM_030662.3:c.*46C>T , LRG_750t1:c.*46C>T NP_109587.1:n.*46C>T
XM_006722799.2:c.*46C>T XP_006722862.1:n.*46C>T
XM_011528133.1:c.*46C>T XP_011526435.1:n.*46C>T
NM_030662.4:c.*46C>T MANE Select NP_109587.1:n.*46C>T
Search 100 bp 5'
Search 100 bp 3'