Canonical Allele Identifier: CA505162566

Gene: MAP2K2

Linked Data

• ClinVar Variation Id: 1778739
• ClinVar RCV Id: RCV002399052
• dbSNP Id: rs1057519910
• MyVariant Identifiers: chr19:g.4117549A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4117551A>G , CM000681.2:g.4117551A>G	GRCh38
NC_000019.9:g.4117549A>G , CM000681.1:g.4117549A>G	GRCh37
NC_000019.8:g.4068549A>G	NCBI36
NG_007996.1:g.11578T>C , LRG_750:g.11578T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.610T>C
ENST00000687128.1:n.610T>C
ENST00000262948.10:c.171T>C MANE Select	ENSP00000262948.4:p.Phe57=
ENST00000262948.9:c.171T>C	ENSP00000262948.3:p.Phe57=
ENST00000394867.8:c.-121T>C	ENSP00000378336.1:n.-121T>C
ENST00000599345.1:n.368T>C
NM_030662.3:c.171T>C , LRG_750t1:c.171T>C	NP_109587.1:p.Phe57=
XM_006722799.2:c.171T>C	XP_006722862.1:p.Phe57=
XM_017026989.1:c.171T>C	XP_016882478.1:p.Phe57=
XM_017026990.1:c.171T>C	XP_016882479.1:p.Phe57=
XM_017026991.1:c.171T>C	XP_016882480.1:p.Phe57=
NM_030662.4:c.171T>C MANE Select	NP_109587.1:p.Phe57=