Canonical Allele Identifier: CA403380687
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs2040845976
gnomAD v4: 19-4090617-G-A
MyVariant Identifiers: chr19:g.4090615G>A (hg19) chr19:g.4090617G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090617G>A , CM000681.2:g.4090617G>A GRCh38
NC_000019.9:g.4090615G>A , CM000681.1:g.4090615G>A GRCh37
NC_000019.8:g.4041615G>A NCBI36
NG_007996.1:g.38512C>T , LRG_750:g.38512C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1623C>T
ENST00000688002.1:n.3335C>T
ENST00000688751.1:n.320C>T
ENST00000689792.1:n.1088C>T
ENST00000262948.10:c.1184C>T MANE Select ENSP00000262948.4:p.Pro395Leu
ENST00000262948.9:c.1184C>T ENSP00000262948.3:p.Pro395Leu
ENST00000394867.8:c.893C>T ENSP00000378336.1:p.Pro298Leu
ENST00000597263.5:n.369C>T
ENST00000599021.1:c.294C>T
ENST00000600584.5:n.2633C>T
ENST00000601786.5:n.1485C>T
NM_030662.3:c.1184C>T , LRG_750t1:c.1184C>T NP_109587.1:p.Pro395Leu
XM_006722799.2:c.905C>T XP_006722862.1:p.Pro302Leu
XM_011528133.1:c.614C>T XP_011526435.1:p.Pro205Leu
NM_030662.4:c.1184C>T MANE Select NP_109587.1:p.Pro395Leu
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