Canonical Allele Identifier: CA2584876949
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4094511-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094511A>T , CM000681.2:g.4094511A>T GRCh38
NC_000019.9:g.4094509A>T , CM000681.1:g.4094509A>T GRCh37
NC_000019.8:g.4045509A>T NCBI36
NG_007996.1:g.34618T>A , LRG_750:g.34618T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1486-13T>A
ENST00000688002.1:n.3198-13T>A
ENST00000688751.1:n.183-13T>A
ENST00000689792.1:n.951-13T>A
ENST00000262948.10:c.1047-13T>A MANE Select ENSP00000262948.4:n.1047-13T>A
ENST00000262948.9:c.1047-13T>A ENSP00000262948.3:n.1047-13T>A
ENST00000394867.8:c.756-13T>A ENSP00000378336.1:n.756-13T>A
ENST00000597263.5:n.232-13T>A
ENST00000599021.1:c.157-13T>A
ENST00000600584.5:n.2483T>A
ENST00000601786.5:n.1348-13T>A
NM_030662.3:c.1047-13T>A , LRG_750t1:c.1047-13T>A NP_109587.1:n.1047-13T>A
XM_006722799.2:c.768-13T>A XP_006722862.1:n.768-13T>A
XM_011528133.1:c.477-13T>A XP_011526435.1:n.477-13T>A
NM_030662.4:c.1047-13T>A MANE Select NP_109587.1:n.1047-13T>A