Canonical Allele Identifier: CA403380853
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090642-G-C
MyVariant Identifiers: chr19:g.4090640G>C (hg19) chr19:g.4090642G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090642G>C , CM000681.2:g.4090642G>C GRCh38
NC_000019.9:g.4090640G>C , CM000681.1:g.4090640G>C GRCh37
NC_000019.8:g.4041640G>C NCBI36
NG_007996.1:g.38487C>G , LRG_750:g.38487C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1598C>G
ENST00000688002.1:n.3310C>G
ENST00000688751.1:n.295C>G
ENST00000689792.1:n.1063C>G
ENST00000262948.10:c.1159C>G MANE Select ENSP00000262948.4:p.Leu387Val
ENST00000262948.9:c.1159C>G ENSP00000262948.3:p.Leu387Val
ENST00000394867.8:c.868C>G ENSP00000378336.1:p.Leu290Val
ENST00000597263.5:n.344C>G
ENST00000599021.1:c.269C>G
ENST00000600584.5:n.2608C>G
ENST00000601786.5:n.1460C>G
NM_030662.3:c.1159C>G , LRG_750t1:c.1159C>G NP_109587.1:p.Leu387Val
XM_006722799.2:c.880C>G XP_006722862.1:p.Leu294Val
XM_011528133.1:c.589C>G XP_011526435.1:p.Leu197Val
NM_030662.4:c.1159C>G MANE Select NP_109587.1:p.Leu387Val
Search 100 bp 5'
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