Canonical Allele Identifier: CA2584877038

Gene: MAP2K2

Linked Data

• gnomAD v4: 19-4094598-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094598G>C , CM000681.2:g.4094598G>C	GRCh38
NC_000019.9:g.4094596G>C , CM000681.1:g.4094596G>C	GRCh37
NC_000019.8:g.4045596G>C	NCBI36
NG_007996.1:g.34531C>G , LRG_750:g.34531C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1486-100C>G
ENST00000688002.1:n.3198-100C>G
ENST00000688751.1:n.183-100C>G
ENST00000689792.1:n.951-100C>G
ENST00000262948.10:c.1047-100C>G MANE Select	ENSP00000262948.4:n.1047-100C>G
ENST00000262948.9:c.1047-100C>G	ENSP00000262948.3:n.1047-100C>G
ENST00000394867.8:c.756-100C>G	ENSP00000378336.1:n.756-100C>G
ENST00000597263.5:n.232-100C>G
ENST00000599021.1:c.157-100C>G
ENST00000600584.5:n.2396C>G
ENST00000601786.5:n.1348-100C>G
NM_030662.3:c.1047-100C>G , LRG_750t1:c.1047-100C>G	NP_109587.1:n.1047-100C>G
XM_006722799.2:c.768-100C>G	XP_006722862.1:n.768-100C>G
XM_011528133.1:c.477-100C>G	XP_011526435.1:n.477-100C>G
XM_017026989.1:c.1495C>G	XP_016882478.1:p.Leu499Val
XM_017026990.1:c.1216C>G	XP_016882479.1:p.Leu406Val
NM_030662.4:c.1047-100C>G MANE Select	NP_109587.1:n.1047-100C>G