Canonical Allele Identifier: CA403380584
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090599-C-A
MyVariant Identifiers: chr19:g.4090597C>A (hg19) chr19:g.4090599C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090599C>A , CM000681.2:g.4090599C>A GRCh38
NC_000019.9:g.4090597C>A , CM000681.1:g.4090597C>A GRCh37
NC_000019.8:g.4041597C>A NCBI36
NG_007996.1:g.38530G>T , LRG_750:g.38530G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1641G>T
ENST00000688002.1:n.3353G>T
ENST00000688751.1:n.338G>T
ENST00000689792.1:n.1106G>T
ENST00000262948.10:c.1202G>T MANE Select ENSP00000262948.4:p.Ter401Leu
ENST00000262948.9:c.1202G>T ENSP00000262948.3:p.Ter401Leu
ENST00000394867.8:c.911G>T ENSP00000378336.1:p.Ter304Leu
ENST00000597263.5:n.387G>T
ENST00000599021.1:c.312G>T
ENST00000600584.5:n.2651G>T
ENST00000601786.5:n.1503G>T
NM_030662.3:c.1202G>T , LRG_750t1:c.1202G>T NP_109587.1:p.Ter401Leu
XM_006722799.2:c.923G>T XP_006722862.1:p.Ter308Leu
XM_011528133.1:c.632G>T XP_011526435.1:p.Ter211Leu
NM_030662.4:c.1202G>T MANE Select NP_109587.1:p.Ter401Leu
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