Canonical Allele Identifier: CA2584877982
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4095575-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4095575C>A , CM000681.2:g.4095575C>A GRCh38
NC_000019.9:g.4095573C>A , CM000681.1:g.4095573C>A GRCh37
NC_000019.8:g.4046573C>A NCBI36
NG_007996.1:g.33554G>T , LRG_750:g.33554G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1424-126G>T
ENST00000688002.1:n.3136-126G>T
ENST00000688751.1:n.121-126G>T
ENST00000689792.1:n.889-126G>T
ENST00000262948.10:c.985-126G>T MANE Select ENSP00000262948.4:n.985-126G>T
ENST00000262948.9:c.985-126G>T ENSP00000262948.3:n.985-126G>T
ENST00000394867.8:c.694-126G>T ENSP00000378336.1:n.694-126G>T
ENST00000595715.1:n.800-126G>T
ENST00000597263.5:n.170-126G>T
ENST00000599021.1:c.95-126G>T
ENST00000600584.5:n.1545-126G>T
ENST00000601786.5:n.1286-126G>T
NM_030662.3:c.985-126G>T , LRG_750t1:c.985-126G>T NP_109587.1:n.985-126G>T
XM_006722799.2:c.706-126G>T XP_006722862.1:n.706-126G>T
XM_011528133.1:c.415-126G>T XP_011526435.1:n.415-126G>T
XM_017026989.1:c.985-126G>T XP_016882478.1:n.985-126G>T
XM_017026990.1:c.706-126G>T XP_016882479.1:n.706-126G>T
NM_030662.4:c.985-126G>T MANE Select NP_109587.1:n.985-126G>T