Canonical Allele Identifier: CA184327
Gene: MAP2K2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.4117635G>A
GRCh37 chr19:g.4117633G>A
gnomAD v2:
19:4117633 G / A
gnomAD v3:
19:4117635 G / A
gnomAD v4:
chr19-4117635-G-A
Joint Max Group AF 0.00004019 (NFE)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.00003717 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4117635G>A , CM000681.2:g.4117635G>A GRCh38
NC_000019.9:g.4117633G>A , CM000681.1:g.4117633G>A GRCh37
NC_000019.8:g.4068633G>A NCBI36
NG_007996.1:g.11494C>T , LRG_750:g.11494C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.526C>T
ENST00000687128.1:n.526C>T
ENST00000262948.10:c.93-6C>T MANE Select ENSP00000262948.4:n.93-6C>T
ENST00000262948.9:c.93-6C>T ENSP00000262948.3:n.93-6C>T
ENST00000394867.8:c.-199-6C>T ENSP00000378336.1:n.-199-6C>T
ENST00000599345.1:n.290-6C>T
NM_030662.3:c.93-6C>T , LRG_750t1:c.93-6C>T NP_109587.1:n.93-6C>T
XM_006722799.2:c.93-6C>T XP_006722862.1:n.93-6C>T
XM_017026989.1:c.93-6C>T XP_016882478.1:n.93-6C>T
XM_017026990.1:c.93-6C>T XP_016882479.1:n.93-6C>T
XM_017026991.1:c.93-6C>T XP_016882480.1:n.93-6C>T
NM_030662.4:c.93-6C>T MANE Select NP_109587.1:n.93-6C>T
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