Canonical Allele Identifier: CA504986612
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs2145049956
MyVariant Identifiers: chr19:g.4099281A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4099283A>G , CM000681.2:g.4099283A>G GRCh38
NC_000019.9:g.4099281A>G , CM000681.1:g.4099281A>G GRCh37
NC_000019.8:g.4050281A>G NCBI36
NG_007996.1:g.29846T>C , LRG_750:g.29846T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1276T>C
ENST00000687128.1:n.1276T>C
ENST00000688002.1:n.1131T>C
ENST00000689792.1:n.741T>C
ENST00000262948.10:c.837T>C MANE Select ENSP00000262948.4:p.Phe279=
ENST00000262948.9:c.837T>C ENSP00000262948.3:p.Phe279=
ENST00000394867.8:c.546T>C ENSP00000378336.1:p.Phe182=
ENST00000593364.5:n.784T>C
ENST00000595715.1:n.652T>C
ENST00000597263.5:n.169+1736T>C
ENST00000599021.1:c.29+1736T>C
ENST00000600584.5:n.1397T>C
ENST00000601786.5:n.1138T>C
NM_030662.3:c.837T>C , LRG_750t1:c.837T>C NP_109587.1:p.Phe279=
XM_006722799.2:c.705+1736T>C XP_006722862.1:n.705+1736T>C
XM_011528133.1:c.267T>C XP_011526435.1:p.Phe89=
XM_017026989.1:c.837T>C XP_016882478.1:p.Phe279=
XM_017026990.1:c.705+1736T>C XP_016882479.1:n.705+1736T>C
NM_030662.4:c.837T>C MANE Select NP_109587.1:p.Phe279=