Canonical Allele Identifier: CA403386473

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 2777650
• ClinVar RCV Id: RCV003655446
• dbSNP Id: rs368064728
• gnomAD v3: 19-4099314-G-T
• gnomAD v4: 19-4099314-G-T
• MyVariant Identifiers: chr19:g.4099312G>T (hg19) ; chr19:g.4099314G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099314G>T , CM000681.2:g.4099314G>T	GRCh38
NC_000019.9:g.4099312G>T , CM000681.1:g.4099312G>T	GRCh37
NC_000019.8:g.4050312G>T	NCBI36
NG_007996.1:g.29815C>A , LRG_750:g.29815C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1245C>A
ENST00000687128.1:n.1245C>A
ENST00000688002.1:n.1100C>A
ENST00000689792.1:n.710C>A
ENST00000262948.10:c.806C>A MANE Select	ENSP00000262948.4:p.Pro269Gln
ENST00000262948.9:c.806C>A	ENSP00000262948.3:p.Pro269Gln
ENST00000394867.8:c.515C>A	ENSP00000378336.1:p.Pro172Gln
ENST00000593364.5:n.753C>A
ENST00000595715.1:n.621C>A
ENST00000597263.5:n.169+1705C>A
ENST00000599021.1:c.29+1705C>A
ENST00000600584.5:n.1366C>A
ENST00000601786.5:n.1107C>A
NM_030662.3:c.806C>A , LRG_750t1:c.806C>A	NP_109587.1:p.Pro269Gln
XM_006722799.2:c.705+1705C>A	XP_006722862.1:n.705+1705C>A
XM_011528133.1:c.236C>A	XP_011526435.1:p.Pro79Gln
XM_017026989.1:c.806C>A	XP_016882478.1:p.Pro269Gln
XM_017026990.1:c.705+1705C>A	XP_016882479.1:n.705+1705C>A
NM_030662.4:c.806C>A MANE Select	NP_109587.1:p.Pro269Gln