Canonical Allele Identifier: CA403381135
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1275501450
gnomAD v2: 19-4090685-A-G
gnomAD v4: 19-4090687-A-G
MyVariant Identifiers: chr19:g.4090685A>G (hg19) chr19:g.4090687A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090687A>G , CM000681.2:g.4090687A>G GRCh38
NC_000019.9:g.4090685A>G , CM000681.1:g.4090685A>G GRCh37
NC_000019.8:g.4041685A>G NCBI36
NG_007996.1:g.38442T>C , LRG_750:g.38442T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1553T>C
ENST00000688002.1:n.3265T>C
ENST00000688751.1:n.250T>C
ENST00000689792.1:n.1018T>C
ENST00000262948.10:c.1114T>C MANE Select ENSP00000262948.4:p.Ser372Pro
ENST00000262948.9:c.1114T>C ENSP00000262948.3:p.Ser372Pro
ENST00000394867.8:c.823T>C ENSP00000378336.1:p.Ser275Pro
ENST00000597263.5:n.299T>C
ENST00000599021.1:c.224T>C
ENST00000600584.5:n.2563T>C
ENST00000601786.5:n.1415T>C
NM_030662.3:c.1114T>C , LRG_750t1:c.1114T>C NP_109587.1:p.Ser372Pro
XM_006722799.2:c.835T>C XP_006722862.1:p.Ser279Pro
XM_011528133.1:c.544T>C XP_011526435.1:p.Ser182Pro
NM_030662.4:c.1114T>C MANE Select NP_109587.1:p.Ser372Pro
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