Canonical Allele Identifier: CA882241166
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1487556680
gnomAD v3: 19-4090412-C-G
gnomAD v4: 19-4090412-C-G
MyVariant Identifiers: chr19:g.4090410C>G (hg19) chr19:g.4090412C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090412C>G , CM000681.2:g.4090412C>G GRCh38
NC_000019.9:g.4090410C>G , CM000681.1:g.4090410C>G GRCh37
NC_000019.8:g.4041410C>G NCBI36
NG_007996.1:g.38717G>C , LRG_750:g.38717G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1828G>C
ENST00000688751.1:n.525G>C
ENST00000689792.1:n.1293G>C
ENST00000262948.10:c.*186G>C MANE Select ENSP00000262948.4:n.*186G>C
ENST00000262948.9:c.*186G>C ENSP00000262948.3:n.*186G>C
ENST00000394867.8:c.*186G>C ENSP00000378336.1:n.*186G>C
ENST00000600584.5:n.2838G>C
ENST00000601786.5:n.1690G>C
NM_030662.3:c.*186G>C , LRG_750t1:c.*186G>C NP_109587.1:n.*186G>C
XM_006722799.2:c.*186G>C XP_006722862.1:n.*186G>C
XM_011528133.1:c.*186G>C XP_011526435.1:n.*186G>C
NM_030662.4:c.*186G>C MANE Select NP_109587.1:n.*186G>C
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