Canonical Allele Identifier: CA2584877145
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4094690-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094690T>G , CM000681.2:g.4094690T>G GRCh38
NC_000019.9:g.4094688T>G , CM000681.1:g.4094688T>G GRCh37
NC_000019.8:g.4045688T>G NCBI36
NG_007996.1:g.34439A>C , LRG_750:g.34439A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1486-192A>C
ENST00000688002.1:n.3198-192A>C
ENST00000688751.1:n.183-192A>C
ENST00000689792.1:n.951-192A>C
ENST00000262948.10:c.1047-192A>C MANE Select ENSP00000262948.4:n.1047-192A>C
ENST00000262948.9:c.1047-192A>C ENSP00000262948.3:n.1047-192A>C
ENST00000394867.8:c.756-192A>C ENSP00000378336.1:n.756-192A>C
ENST00000597263.5:n.232-192A>C
ENST00000599021.1:c.157-192A>C
ENST00000600584.5:n.2304A>C
ENST00000601786.5:n.1348-192A>C
NM_030662.3:c.1047-192A>C , LRG_750t1:c.1047-192A>C NP_109587.1:n.1047-192A>C
XM_006722799.2:c.768-192A>C XP_006722862.1:n.768-192A>C
XM_011528133.1:c.477-192A>C XP_011526435.1:n.477-192A>C
XM_017026989.1:c.1403A>C XP_016882478.1:p.Lys468Thr
XM_017026990.1:c.1124A>C XP_016882479.1:p.Lys375Thr
NM_030662.4:c.1047-192A>C MANE Select NP_109587.1:n.1047-192A>C