Canonical Allele Identifier: CA2319219689
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs527264360
gnomAD v4: 19-4090532-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090532G>T , CM000681.2:g.4090532G>T GRCh38
NC_000019.9:g.4090530G>T , CM000681.1:g.4090530G>T GRCh37
NC_000019.8:g.4041530G>T NCBI36
NG_007996.1:g.38597C>A , LRG_750:g.38597C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1708C>A
ENST00000688002.1:n.3420C>A
ENST00000688751.1:n.405C>A
ENST00000689792.1:n.1173C>A
ENST00000262948.10:c.*66C>A MANE Select ENSP00000262948.4:n.*66C>A
ENST00000262948.9:c.*66C>A ENSP00000262948.3:n.*66C>A
ENST00000394867.8:c.*66C>A ENSP00000378336.1:n.*66C>A
ENST00000597263.5:n.454C>A
ENST00000600584.5:n.2718C>A
ENST00000601786.5:n.1570C>A
NM_030662.3:c.*66C>A , LRG_750t1:c.*66C>A NP_109587.1:n.*66C>A
XM_006722799.2:c.*66C>A XP_006722862.1:n.*66C>A
XM_011528133.1:c.*66C>A XP_011526435.1:n.*66C>A
NM_030662.4:c.*66C>A MANE Select NP_109587.1:n.*66C>A
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