Canonical Allele Identifier: CA304445714
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs866020481
gnomAD v3: 19-4090662-G-A
gnomAD v4: 19-4090662-G-A
MyVariant Identifiers: chr19:g.4090660G>A (hg19) chr19:g.4090662G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090662G>A , CM000681.2:g.4090662G>A GRCh38
NC_000019.9:g.4090660G>A , CM000681.1:g.4090660G>A GRCh37
NC_000019.8:g.4041660G>A NCBI36
NG_007996.1:g.38467C>T , LRG_750:g.38467C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1578C>T
ENST00000688002.1:n.3290C>T
ENST00000688751.1:n.275C>T
ENST00000689792.1:n.1043C>T
ENST00000262948.10:c.1139C>T MANE Select ENSP00000262948.4:p.Ala380Val
ENST00000262948.9:c.1139C>T ENSP00000262948.3:p.Ala380Val
ENST00000394867.8:c.848C>T ENSP00000378336.1:p.Ala283Val
ENST00000597263.5:n.324C>T
ENST00000599021.1:c.249C>T
ENST00000600584.5:n.2588C>T
ENST00000601786.5:n.1440C>T
NM_030662.3:c.1139C>T , LRG_750t1:c.1139C>T NP_109587.1:p.Ala380Val
XM_006722799.2:c.860C>T XP_006722862.1:p.Ala287Val
XM_011528133.1:c.569C>T XP_011526435.1:p.Ala190Val
NM_030662.4:c.1139C>T MANE Select NP_109587.1:p.Ala380Val
Search 100 bp 5'
Search 100 bp 3'