Canonical Allele Identifier: CA304447187

Gene: MAP2K2

Linked Data

• dbSNP Id: rs577250529
• gnomAD v2: 19-4094586-C-T
• gnomAD v3: 19-4094588-C-T
• gnomAD v4: 19-4094588-C-T
• MyVariant Identifiers: chr19:g.4094586C>T (hg19) ; chr19:g.4094588C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4094588C>T , CM000681.2:g.4094588C>T	GRCh38
NC_000019.9:g.4094586C>T , CM000681.1:g.4094586C>T	GRCh37
NC_000019.8:g.4045586C>T	NCBI36
NG_007996.1:g.34541G>A , LRG_750:g.34541G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1486-90G>A
ENST00000688002.1:n.3198-90G>A
ENST00000688751.1:n.183-90G>A
ENST00000689792.1:n.951-90G>A
ENST00000262948.10:c.1047-90G>A MANE Select	ENSP00000262948.4:n.1047-90G>A
ENST00000262948.9:c.1047-90G>A	ENSP00000262948.3:n.1047-90G>A
ENST00000394867.8:c.756-90G>A	ENSP00000378336.1:n.756-90G>A
ENST00000597263.5:n.232-90G>A
ENST00000599021.1:c.157-90G>A
ENST00000600584.5:n.2406G>A
ENST00000601786.5:n.1348-90G>A
NM_030662.3:c.1047-90G>A , LRG_750t1:c.1047-90G>A	NP_109587.1:n.1047-90G>A
XM_006722799.2:c.768-90G>A	XP_006722862.1:n.768-90G>A
XM_011528133.1:c.477-90G>A	XP_011526435.1:n.477-90G>A
XM_017026989.1:c.1505G>A	XP_016882478.1:p.Arg502Gln
XM_017026990.1:c.1226G>A	XP_016882479.1:p.Arg409Gln
NM_030662.4:c.1047-90G>A MANE Select	NP_109587.1:n.1047-90G>A