Canonical Allele Identifier: CA2576573174
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4094375-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4094375G>T , CM000681.2:g.4094375G>T GRCh38
NC_000019.9:g.4094373G>T , CM000681.1:g.4094373G>T GRCh37
NC_000019.8:g.4045373G>T NCBI36
NG_007996.1:g.34754C>A , LRG_750:g.34754C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1531+78C>A
ENST00000688002.1:n.3243+78C>A
ENST00000688751.1:n.228+78C>A
ENST00000689792.1:n.996+78C>A
ENST00000262948.10:c.1092+78C>A MANE Select ENSP00000262948.4:n.1092+78C>A
ENST00000262948.9:c.1092+78C>A ENSP00000262948.3:n.1092+78C>A
ENST00000394867.8:c.801+78C>A ENSP00000378336.1:n.801+78C>A
ENST00000597263.5:n.277+78C>A
ENST00000599021.1:c.202+78C>A
ENST00000600584.5:n.2541+78C>A
ENST00000601786.5:n.1393+78C>A
NM_030662.3:c.1092+78C>A , LRG_750t1:c.1092+78C>A NP_109587.1:n.1092+78C>A
XM_006722799.2:c.813+78C>A XP_006722862.1:n.813+78C>A
XM_011528133.1:c.522+78C>A XP_011526435.1:n.522+78C>A
NM_030662.4:c.1092+78C>A MANE Select NP_109587.1:n.1092+78C>A