Canonical Allele Identifier: CA504984313
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1254414731
gnomAD v2: 19-4090629-G-A
gnomAD v4: 19-4090631-G-A
MyVariant Identifiers: chr19:g.4090629G>A (hg19) chr19:g.4090631G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090631G>A , CM000681.2:g.4090631G>A GRCh38
NC_000019.9:g.4090629G>A , CM000681.1:g.4090629G>A GRCh37
NC_000019.8:g.4041629G>A NCBI36
NG_007996.1:g.38498C>T , LRG_750:g.38498C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1609C>T
ENST00000688002.1:n.3321C>T
ENST00000688751.1:n.306C>T
ENST00000689792.1:n.1074C>T
ENST00000262948.10:c.1170C>T MANE Select ENSP00000262948.4:p.Asn390=
ENST00000262948.9:c.1170C>T ENSP00000262948.3:p.Asn390=
ENST00000394867.8:c.879C>T ENSP00000378336.1:p.Asn293=
ENST00000597263.5:n.355C>T
ENST00000599021.1:c.280C>T
ENST00000600584.5:n.2619C>T
ENST00000601786.5:n.1471C>T
NM_030662.3:c.1170C>T , LRG_750t1:c.1170C>T NP_109587.1:p.Asn390=
XM_006722799.2:c.891C>T XP_006722862.1:p.Asn297=
XM_011528133.1:c.600C>T XP_011526435.1:p.Asn200=
NM_030662.4:c.1170C>T MANE Select NP_109587.1:p.Asn390=
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