Canonical Allele Identifier: CA403381051
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090672-C-A
MyVariant Identifiers: chr19:g.4090670C>A (hg19) chr19:g.4090672C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090672C>A , CM000681.2:g.4090672C>A GRCh38
NC_000019.9:g.4090670C>A , CM000681.1:g.4090670C>A GRCh37
NC_000019.8:g.4041670C>A NCBI36
NG_007996.1:g.38457G>T , LRG_750:g.38457G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1568G>T
ENST00000688002.1:n.3280G>T
ENST00000688751.1:n.265G>T
ENST00000689792.1:n.1033G>T
ENST00000262948.10:c.1129G>T MANE Select ENSP00000262948.4:p.Val377Leu
ENST00000262948.9:c.1129G>T ENSP00000262948.3:p.Val377Leu
ENST00000394867.8:c.838G>T ENSP00000378336.1:p.Val280Leu
ENST00000597263.5:n.314G>T
ENST00000599021.1:c.239G>T
ENST00000600584.5:n.2578G>T
ENST00000601786.5:n.1430G>T
NM_030662.3:c.1129G>T , LRG_750t1:c.1129G>T NP_109587.1:p.Val377Leu
XM_006722799.2:c.850G>T XP_006722862.1:p.Val284Leu
XM_011528133.1:c.559G>T XP_011526435.1:p.Val187Leu
NM_030662.4:c.1129G>T MANE Select NP_109587.1:p.Val377Leu
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