Canonical Allele Identifier: CA403380613
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090603-C-G
MyVariant Identifiers: chr19:g.4090601C>G (hg19) chr19:g.4090603C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090603C>G , CM000681.2:g.4090603C>G GRCh38
NC_000019.9:g.4090601C>G , CM000681.1:g.4090601C>G GRCh37
NC_000019.8:g.4041601C>G NCBI36
NG_007996.1:g.38526G>C , LRG_750:g.38526G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1637G>C
ENST00000688002.1:n.3349G>C
ENST00000688751.1:n.334G>C
ENST00000689792.1:n.1102G>C
ENST00000262948.10:c.1198G>C MANE Select ENSP00000262948.4:p.Val400Leu
ENST00000262948.9:c.1198G>C ENSP00000262948.3:p.Val400Leu
ENST00000394867.8:c.907G>C ENSP00000378336.1:p.Val303Leu
ENST00000597263.5:n.383G>C
ENST00000599021.1:c.308G>C
ENST00000600584.5:n.2647G>C
ENST00000601786.5:n.1499G>C
NM_030662.3:c.1198G>C , LRG_750t1:c.1198G>C NP_109587.1:p.Val400Leu
XM_006722799.2:c.919G>C XP_006722862.1:p.Val307Leu
XM_011528133.1:c.628G>C XP_011526435.1:p.Val210Leu
NM_030662.4:c.1198G>C MANE Select NP_109587.1:p.Val400Leu
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