Canonical Allele Identifier: CA403381152
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1398919
ClinVar RCV Id: RCV001915310
dbSNP Id: rs1599278009
MyVariant Identifiers: chr19:g.4090690T>A (hg19) chr19:g.4090692T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090692T>A , CM000681.2:g.4090692T>A GRCh38
NC_000019.9:g.4090690T>A , CM000681.1:g.4090690T>A GRCh37
NC_000019.8:g.4041690T>A NCBI36
NG_007996.1:g.38437A>T , LRG_750:g.38437A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1548A>T
ENST00000688002.1:n.3260A>T
ENST00000688751.1:n.245A>T
ENST00000689792.1:n.1013A>T
ENST00000262948.10:c.1109A>T MANE Select ENSP00000262948.4:p.Lys370Met
ENST00000262948.9:c.1109A>T ENSP00000262948.3:p.Lys370Met
ENST00000394867.8:c.818A>T ENSP00000378336.1:p.Lys273Met
ENST00000597263.5:n.294A>T
ENST00000599021.1:c.219A>T
ENST00000600584.5:n.2558A>T
ENST00000601786.5:n.1410A>T
NM_030662.3:c.1109A>T , LRG_750t1:c.1109A>T NP_109587.1:p.Lys370Met
XM_006722799.2:c.830A>T XP_006722862.1:p.Lys277Met
XM_011528133.1:c.539A>T XP_011526435.1:p.Lys180Met
NM_030662.4:c.1109A>T MANE Select NP_109587.1:p.Lys370Met
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