Canonical Allele Identifier: CA2584876596

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4090520-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090520T>C , CM000681.2:g.4090520T>C	GRCh38
NC_000019.9:g.4090518T>C , CM000681.1:g.4090518T>C	GRCh37
NC_000019.8:g.4041518T>C	NCBI36
NG_007996.1:g.38609A>G , LRG_750:g.38609A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1720A>G
ENST00000688002.1:n.3432A>G
ENST00000688751.1:n.417A>G
ENST00000689792.1:n.1185A>G
ENST00000262948.10:c.*78A>G MANE Select	ENSP00000262948.4:n.*78A>G
ENST00000262948.9:c.*78A>G	ENSP00000262948.3:n.*78A>G
ENST00000394867.8:c.*78A>G	ENSP00000378336.1:n.*78A>G
ENST00000597263.5:n.466A>G
ENST00000600584.5:n.2730A>G
ENST00000601786.5:n.1582A>G
NM_030662.3:c.*78A>G , LRG_750t1:c.*78A>G	NP_109587.1:n.*78A>G
XM_006722799.2:c.*78A>G	XP_006722862.1:n.*78A>G
XM_011528133.1:c.*78A>G	XP_011526435.1:n.*78A>G
NM_030662.4:c.*78A>G MANE Select	NP_109587.1:n.*78A>G