Canonical Allele Identifier: CA304447210

Gene: MAP2K2

Linked Data

• dbSNP Id: rs368502889
• gnomAD v2: 19-4094682-T-C
• gnomAD v3: 19-4094684-T-C
• gnomAD v4: 19-4094684-T-C
• MyVariant Identifiers: chr19:g.4094682T>C (hg19) ; chr19:g.4094684T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094684T>C , CM000681.2:g.4094684T>C	GRCh38
NC_000019.9:g.4094682T>C , CM000681.1:g.4094682T>C	GRCh37
NC_000019.8:g.4045682T>C	NCBI36
NG_007996.1:g.34445A>G , LRG_750:g.34445A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1486-186A>G
ENST00000688002.1:n.3198-186A>G
ENST00000688751.1:n.183-186A>G
ENST00000689792.1:n.951-186A>G
ENST00000262948.10:c.1047-186A>G MANE Select	ENSP00000262948.4:n.1047-186A>G
ENST00000262948.9:c.1047-186A>G	ENSP00000262948.3:n.1047-186A>G
ENST00000394867.8:c.756-186A>G	ENSP00000378336.1:n.756-186A>G
ENST00000597263.5:n.232-186A>G
ENST00000599021.1:c.157-186A>G
ENST00000600584.5:n.2310A>G
ENST00000601786.5:n.1348-186A>G
NM_030662.3:c.1047-186A>G , LRG_750t1:c.1047-186A>G	NP_109587.1:n.1047-186A>G
XM_006722799.2:c.768-186A>G	XP_006722862.1:n.768-186A>G
XM_011528133.1:c.477-186A>G	XP_011526435.1:n.477-186A>G
XM_017026989.1:c.1409A>G	XP_016882478.1:p.Gln470Arg
XM_017026990.1:c.1130A>G	XP_016882479.1:p.Gln377Arg
NM_030662.4:c.1047-186A>G MANE Select	NP_109587.1:n.1047-186A>G