Canonical Allele Identifier: CA631714503

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 3017363
• ClinVar RCV Id: RCV003871482
• dbSNP Id: rs350911
• gnomAD v2: 19-4099187-T-G
• gnomAD v4: 19-4099189-T-G
• MyVariant Identifiers: chr19:g.4099187T>G (hg19) ; chr19:g.4099189T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099189T>G , CM000681.2:g.4099189T>G	GRCh38
NC_000019.9:g.4099187T>G , CM000681.1:g.4099187T>G	GRCh37
NC_000019.8:g.4050187T>G	NCBI36
NG_007996.1:g.29940A>C , LRG_750:g.29940A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1358+12A>C
ENST00000687128.1:n.1370A>C
ENST00000688002.1:n.1225A>C
ENST00000689792.1:n.823+12A>C
ENST00000262948.10:c.919+12A>C MANE Select	ENSP00000262948.4:n.919+12A>C
ENST00000262948.9:c.919+12A>C	ENSP00000262948.3:n.919+12A>C
ENST00000394867.8:c.628+12A>C	ENSP00000378336.1:n.628+12A>C
ENST00000595715.1:n.734+12A>C
ENST00000597263.5:n.169+1830A>C
ENST00000599021.1:c.29+1830A>C
ENST00000600584.5:n.1479+12A>C
ENST00000601786.5:n.1220+12A>C
NM_030662.3:c.919+12A>C , LRG_750t1:c.919+12A>C	NP_109587.1:n.919+12A>C
XM_006722799.2:c.705+1830A>C	XP_006722862.1:n.705+1830A>C
XM_011528133.1:c.349+12A>C	XP_011526435.1:n.349+12A>C
XM_017026989.1:c.919+12A>C	XP_016882478.1:n.919+12A>C
XM_017026990.1:c.705+1830A>C	XP_016882479.1:n.705+1830A>C
NM_030662.4:c.919+12A>C MANE Select	NP_109587.1:n.919+12A>C