Canonical Allele Identifier: CA403386494

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1599287004
• gnomAD v4: 19-4099320-A-G
• MyVariant Identifiers: chr19:g.4099318A>G (hg19) ; chr19:g.4099320A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099320A>G , CM000681.2:g.4099320A>G	GRCh38
NC_000019.9:g.4099318A>G , CM000681.1:g.4099318A>G	GRCh37
NC_000019.8:g.4050318A>G	NCBI36
NG_007996.1:g.29809T>C , LRG_750:g.29809T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1239T>C
ENST00000687128.1:n.1239T>C
ENST00000688002.1:n.1094T>C
ENST00000689792.1:n.704T>C
ENST00000262948.10:c.800T>C MANE Select	ENSP00000262948.4:p.Ile267Thr
ENST00000262948.9:c.800T>C	ENSP00000262948.3:p.Ile267Thr
ENST00000394867.8:c.509T>C	ENSP00000378336.1:p.Ile170Thr
ENST00000593364.5:n.747T>C
ENST00000595715.1:n.615T>C
ENST00000597263.5:n.169+1699T>C
ENST00000599021.1:c.29+1699T>C
ENST00000600584.5:n.1360T>C
ENST00000601786.5:n.1101T>C
NM_030662.3:c.800T>C , LRG_750t1:c.800T>C	NP_109587.1:p.Ile267Thr
XM_006722799.2:c.705+1699T>C	XP_006722862.1:n.705+1699T>C
XM_011528133.1:c.230T>C	XP_011526435.1:p.Ile77Thr
XM_017026989.1:c.800T>C	XP_016882478.1:p.Ile267Thr
XM_017026990.1:c.705+1699T>C	XP_016882479.1:n.705+1699T>C
NM_030662.4:c.800T>C MANE Select	NP_109587.1:p.Ile267Thr