Canonical Allele Identifier: CA296119

Gene: MAP2K1

Linked Data

• ClinVar Variation Id: 40752
• ClinVar RCV Id: RCV000158011
• dbSNP Id: rs730880506
• MyVariant Identifiers: chr15:g.66774181G>C (hg19) ; chr15:g.66481843G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66481843G>C , CM000677.2:g.66481843G>C	GRCh38
NC_000015.9:g.66774181G>C , CM000677.1:g.66774181G>C	GRCh37
NC_000015.8:g.64561235G>C	NCBI36
NG_008305.1:g.99971G>C , LRG_725:g.99971G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684779.1:c.591G>C	ENSP00000508681.1:p.Met197Ile
ENST00000685172.1:c.657G>C	ENSP00000509604.1:p.Met219Ile
ENST00000685763.1:c.510G>C	ENSP00000509016.1:p.Met170Ile
ENST00000686347.1:c.569-5385G>C	ENSP00000509027.1:n.569-5385G>C
ENST00000687191.1:n.1015G>C
ENST00000689951.1:c.708G>C	ENSP00000509308.1:p.Met236Ile
ENST00000691077.1:c.657G>C	ENSP00000509843.1:p.Met219Ile
ENST00000691576.1:c.569-3151G>C	ENSP00000510066.1:n.569-3151G>C
ENST00000691937.1:c.657G>C	ENSP00000508768.1:p.Met219Ile
ENST00000692487.1:c.657G>C	ENSP00000509534.1:p.Met219Ile
ENST00000692683.1:c.591G>C	ENSP00000508437.1:p.Met197Ile
ENST00000693150.1:c.513G>C	ENSP00000510309.1:p.Met171Ile
ENST00000307102.10:c.657G>C MANE Select	ENSP00000302486.5:p.Met219Ile
ENST00000307102.9:c.657G>C	ENSP00000302486.4:p.Met219Ile
ENST00000566326.1:c.129G>C	ENSP00000456438.1:p.Met43Ile
NM_002755.3:c.657G>C , LRG_725t1:c.657G>C	NP_002746.1:p.Met219Ile
XM_011521783.1:c.591G>C	XP_011520085.1:p.Met197Ile
XM_011521783.3:c.591G>C	XP_011520085.1:p.Met197Ile
XM_017022411.2:c.579G>C	XP_016877900.1:p.Met193Ile
XM_017022412.1:c.513G>C	XP_016877901.1:p.Met171Ile
XM_017022413.1:c.129G>C	XP_016877902.1:p.Met43Ile
NM_002755.4:c.657G>C MANE Select	NP_002746.1:p.Met219Ile