Canonical Allele Identifier: CA403380888
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090647-T-C
MyVariant Identifiers: chr19:g.4090645T>C (hg19) chr19:g.4090647T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090647T>C , CM000681.2:g.4090647T>C GRCh38
NC_000019.9:g.4090645T>C , CM000681.1:g.4090645T>C GRCh37
NC_000019.8:g.4041645T>C NCBI36
NG_007996.1:g.38482A>G , LRG_750:g.38482A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1593A>G
ENST00000688002.1:n.3305A>G
ENST00000688751.1:n.290A>G
ENST00000689792.1:n.1058A>G
ENST00000262948.10:c.1154A>G MANE Select ENSP00000262948.4:p.Lys385Arg
ENST00000262948.9:c.1154A>G ENSP00000262948.3:p.Lys385Arg
ENST00000394867.8:c.863A>G ENSP00000378336.1:p.Lys288Arg
ENST00000597263.5:n.339A>G
ENST00000599021.1:c.264A>G
ENST00000600584.5:n.2603A>G
ENST00000601786.5:n.1455A>G
NM_030662.3:c.1154A>G , LRG_750t1:c.1154A>G NP_109587.1:p.Lys385Arg
XM_006722799.2:c.875A>G XP_006722862.1:p.Lys292Arg
XM_011528133.1:c.584A>G XP_011526435.1:p.Lys195Arg
NM_030662.4:c.1154A>G MANE Select NP_109587.1:p.Lys385Arg
Search 100 bp 5'
Search 100 bp 3'