Canonical Allele Identifier: CA403380908
Gene: MAP2K2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.4090647A>C (hg19) chr19:g.4090649A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090649A>C , CM000681.2:g.4090649A>C GRCh38
NC_000019.9:g.4090647A>C , CM000681.1:g.4090647A>C GRCh37
NC_000019.8:g.4041647A>C NCBI36
NG_007996.1:g.38480T>G , LRG_750:g.38480T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1591T>G
ENST00000688002.1:n.3303T>G
ENST00000688751.1:n.288T>G
ENST00000689792.1:n.1056T>G
ENST00000262948.10:c.1152T>G MANE Select ENSP00000262948.4:p.Cys384Trp
ENST00000262948.9:c.1152T>G ENSP00000262948.3:p.Cys384Trp
ENST00000394867.8:c.861T>G ENSP00000378336.1:p.Cys287Trp
ENST00000597263.5:n.337T>G
ENST00000599021.1:c.262T>G
ENST00000600584.5:n.2601T>G
ENST00000601786.5:n.1453T>G
NM_030662.3:c.1152T>G , LRG_750t1:c.1152T>G NP_109587.1:p.Cys384Trp
XM_006722799.2:c.873T>G XP_006722862.1:p.Cys291Trp
XM_011528133.1:c.582T>G XP_011526435.1:p.Cys194Trp
NM_030662.4:c.1152T>G MANE Select NP_109587.1:p.Cys384Trp
Search 100 bp 5'
Search 100 bp 3'