Canonical Allele Identifier: CA2584876548
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4090484-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090484A>G , CM000681.2:g.4090484A>G GRCh38
NC_000019.9:g.4090482A>G , CM000681.1:g.4090482A>G GRCh37
NC_000019.8:g.4041482A>G NCBI36
NG_007996.1:g.38645T>C , LRG_750:g.38645T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1756T>C
ENST00000688002.1:n.3468T>C
ENST00000688751.1:n.453T>C
ENST00000689792.1:n.1221T>C
ENST00000262948.10:c.*114T>C MANE Select ENSP00000262948.4:n.*114T>C
ENST00000262948.9:c.*114T>C ENSP00000262948.3:n.*114T>C
ENST00000394867.8:c.*114T>C ENSP00000378336.1:n.*114T>C
ENST00000597263.5:n.502T>C
ENST00000600584.5:n.2766T>C
ENST00000601786.5:n.1618T>C
NM_030662.3:c.*114T>C , LRG_750t1:c.*114T>C NP_109587.1:n.*114T>C
XM_006722799.2:c.*114T>C XP_006722862.1:n.*114T>C
XM_011528133.1:c.*114T>C XP_011526435.1:n.*114T>C
NM_030662.4:c.*114T>C MANE Select NP_109587.1:n.*114T>C