Canonical Allele Identifier: CA403391454

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 1447640
• ClinVar RCV Id: RCV001979923 ; RCV004043833
• dbSNP Id: rs1263759203
• gnomAD v3: 19-4110571-T-C
• gnomAD v4: 19-4110571-T-C
• MyVariant Identifiers: chr19:g.4110569T>C (hg19) ; chr19:g.4110571T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4110571T>C , CM000681.2:g.4110571T>C	GRCh38
NC_000019.9:g.4110569T>C , CM000681.1:g.4110569T>C	GRCh37
NC_000019.8:g.4061569T>C	NCBI36
NG_007996.1:g.18558A>G , LRG_750:g.18558A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.827A>G
ENST00000687128.1:n.827A>G
ENST00000262948.10:c.388A>G MANE Select	ENSP00000262948.4:p.Ile130Val
ENST00000262948.9:c.388A>G	ENSP00000262948.3:p.Ile130Val
ENST00000394867.8:c.97A>G	ENSP00000378336.1:p.Ile33Val
ENST00000599345.1:n.585A>G
NM_030662.3:c.388A>G , LRG_750t1:c.388A>G	NP_109587.1:p.Ile130Val
XM_006722799.2:c.388A>G	XP_006722862.1:p.Ile130Val
XM_017026989.1:c.388A>G	XP_016882478.1:p.Ile130Val
XM_017026990.1:c.388A>G	XP_016882479.1:p.Ile130Val
XM_017026991.1:c.388A>G	XP_016882480.1:p.Ile130Val
NM_030662.4:c.388A>G MANE Select	NP_109587.1:p.Ile130Val