Canonical Allele Identifier: CA2584876593

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4090518-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090518C>A , CM000681.2:g.4090518C>A	GRCh38
NC_000019.9:g.4090516C>A , CM000681.1:g.4090516C>A	GRCh37
NC_000019.8:g.4041516C>A	NCBI36
NG_007996.1:g.38611G>T , LRG_750:g.38611G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1722G>T
ENST00000688002.1:n.3434G>T
ENST00000688751.1:n.419G>T
ENST00000689792.1:n.1187G>T
ENST00000262948.10:c.*80G>T MANE Select	ENSP00000262948.4:n.*80G>T
ENST00000262948.9:c.*80G>T	ENSP00000262948.3:n.*80G>T
ENST00000394867.8:c.*80G>T	ENSP00000378336.1:n.*80G>T
ENST00000597263.5:n.468G>T
ENST00000600584.5:n.2732G>T
ENST00000601786.5:n.1584G>T
NM_030662.3:c.*80G>T , LRG_750t1:c.*80G>T	NP_109587.1:n.*80G>T
XM_006722799.2:c.*80G>T	XP_006722862.1:n.*80G>T
XM_011528133.1:c.*80G>T	XP_011526435.1:n.*80G>T
NM_030662.4:c.*80G>T MANE Select	NP_109587.1:n.*80G>T