Canonical Allele Identifier: CA9090940
Gene: MAP2K2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.4102357G>A
GRCh37 chr19:g.4102355G>A
gnomAD v2:
19:4102355 G / A
gnomAD v3:
19:4102357 G / A
gnomAD v4:
chr19-4102357-G-A
Joint Max Group AF 0.00003487 (AFR)
Genomes Max Group AF 0.00001921 (AFR)
Exomes Max Group AF 0.00002401 (AFR)
ClinVar RCV:
RCV002218025
ClinVar Variation:
1564801
dbSNP:
769390409
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4102357G>A , CM000681.2:g.4102357G>A GRCh38
NC_000019.9:g.4102355G>A , CM000681.1:g.4102355G>A GRCh37
NC_000019.8:g.4053355G>A NCBI36
NG_007996.1:g.26772C>T , LRG_750:g.26772C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.967+19C>T
ENST00000687128.1:n.967+19C>T
ENST00000689792.1:n.468+19C>T
ENST00000262948.10:c.528+19C>T MANE Select ENSP00000262948.4:n.528+19C>T
ENST00000262948.9:c.528+19C>T ENSP00000262948.3:n.528+19C>T
ENST00000394867.8:c.237+19C>T ENSP00000378336.1:n.237+19C>T
ENST00000593364.5:n.475+19C>T
ENST00000597008.5:n.129+19C>T
ENST00000599345.1:n.798+19C>T
ENST00000601786.5:n.829+19C>T
ENST00000602167.5:n.248+19C>T
NM_030662.3:c.528+19C>T , LRG_750t1:c.528+19C>T NP_109587.1:n.528+19C>T
XM_006722799.2:c.528+19C>T XP_006722862.1:n.528+19C>T
XM_011528133.1:c.-43+19C>T XP_011526435.1:n.-43+19C>T
XM_017026989.1:c.528+19C>T XP_016882478.1:n.528+19C>T
XM_017026990.1:c.528+19C>T XP_016882479.1:n.528+19C>T
XM_017026991.1:c.528+19C>T XP_016882480.1:n.528+19C>T
NM_030662.4:c.528+19C>T MANE Select NP_109587.1:n.528+19C>T
Search 100 bp 5'
Search 100 bp 3'