Canonical Allele Identifier: CA403380934
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090653-A-G
MyVariant Identifiers: chr19:g.4090651A>G (hg19) chr19:g.4090653A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090653A>G , CM000681.2:g.4090653A>G GRCh38
NC_000019.9:g.4090651A>G , CM000681.1:g.4090651A>G GRCh37
NC_000019.8:g.4041651A>G NCBI36
NG_007996.1:g.38476T>C , LRG_750:g.38476T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1587T>C
ENST00000688002.1:n.3299T>C
ENST00000688751.1:n.284T>C
ENST00000689792.1:n.1052T>C
ENST00000262948.10:c.1148T>C MANE Select ENSP00000262948.4:p.Leu383Ser
ENST00000262948.9:c.1148T>C ENSP00000262948.3:p.Leu383Ser
ENST00000394867.8:c.857T>C ENSP00000378336.1:p.Leu286Ser
ENST00000597263.5:n.333T>C
ENST00000599021.1:c.258T>C
ENST00000600584.5:n.2597T>C
ENST00000601786.5:n.1449T>C
NM_030662.3:c.1148T>C , LRG_750t1:c.1148T>C NP_109587.1:p.Leu383Ser
XM_006722799.2:c.869T>C XP_006722862.1:p.Leu290Ser
XM_011528133.1:c.578T>C XP_011526435.1:p.Leu193Ser
NM_030662.4:c.1148T>C MANE Select NP_109587.1:p.Leu383Ser
Search 100 bp 5'
Search 100 bp 3'