Canonical Allele Identifier: CA403383462

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2040904659
• gnomAD v3: 19-4095445-G-A
• gnomAD v4: 19-4095445-G-A
• MyVariant Identifiers: chr19:g.4095443G>A (hg19) ; chr19:g.4095445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095445G>A , CM000681.2:g.4095445G>A	GRCh38
NC_000019.9:g.4095443G>A , CM000681.1:g.4095443G>A	GRCh37
NC_000019.8:g.4046443G>A	NCBI36
NG_007996.1:g.33684C>T , LRG_750:g.33684C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1428C>T
ENST00000688002.1:n.3140C>T
ENST00000688751.1:n.125C>T
ENST00000689792.1:n.893C>T
ENST00000262948.10:c.989C>T MANE Select	ENSP00000262948.4:p.Pro330Leu
ENST00000262948.9:c.989C>T	ENSP00000262948.3:p.Pro330Leu
ENST00000394867.8:c.698C>T	ENSP00000378336.1:p.Pro233Leu
ENST00000595715.1:n.804C>T
ENST00000597263.5:n.174C>T
ENST00000599021.1:c.99C>T
ENST00000600584.5:n.1549C>T
ENST00000601786.5:n.1290C>T
NM_030662.3:c.989C>T , LRG_750t1:c.989C>T	NP_109587.1:p.Pro330Leu
XM_006722799.2:c.710C>T	XP_006722862.1:p.Pro237Leu
XM_011528133.1:c.419C>T	XP_011526435.1:p.Pro140Leu
XM_017026989.1:c.989C>T	XP_016882478.1:p.Pro330Leu
XM_017026990.1:c.710C>T	XP_016882479.1:p.Pro237Leu
NM_030662.4:c.989C>T MANE Select	NP_109587.1:p.Pro330Leu