Canonical Allele Identifier: CA279966

Gene: MAP2K1

Linked Data

• ClinVar Variation Id: 13350
• ClinVar RCV Id: RCV000014278 ; RCV000158002 ; RCV000520164
• dbSNP Id: rs121908594
• MyVariant Identifiers: chr15:g.66727442T>C (hg19) ; chr15:g.66435104T>C (hg38)
• ERepo: CA279966/MONDO:0015280/004 ; CA279966/MONDO:0021060/045
• PubMed: PMID:16439621 ; PMID:17981815 ; PMID:18413255

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66435104T>C , CM000677.2:g.66435104T>C	GRCh38
NC_000015.9:g.66727442T>C , CM000677.1:g.66727442T>C	GRCh37
NC_000015.8:g.64514496T>C	NCBI36
NG_008305.1:g.53232T>C , LRG_725:g.53232T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.92T>C	ENSP00000508681.1:p.Phe31Ser
ENST00000685172.1:c.158T>C	ENSP00000509604.1:p.Phe53Ser
ENST00000685763.1:c.158T>C	ENSP00000509016.1:p.Phe53Ser
ENST00000686347.1:c.158T>C	ENSP00000509027.1:p.Phe53Ser
ENST00000687191.1:n.594T>C
ENST00000689951.1:c.158T>C	ENSP00000509308.1:p.Phe53Ser
ENST00000691077.1:c.158T>C	ENSP00000509843.1:p.Phe53Ser
ENST00000691576.1:c.158T>C	ENSP00000510066.1:p.Phe53Ser
ENST00000691937.1:c.158T>C	ENSP00000508768.1:p.Phe53Ser
ENST00000692487.1:c.158T>C	ENSP00000509534.1:p.Phe53Ser
ENST00000692683.1:c.92T>C	ENSP00000508437.1:p.Phe31Ser
ENST00000693150.1:c.92T>C	ENSP00000510309.1:p.Phe31Ser
ENST00000307102.10:c.158T>C MANE Select	ENSP00000302486.5:p.Phe53Ser
ENST00000307102.9:c.158T>C	ENSP00000302486.4:p.Phe53Ser
ENST00000425818.2:n.669T>C
NM_002755.3:c.158T>C , LRG_725t1:c.158T>C	NP_002746.1:p.Phe53Ser
XM_011521783.1:c.92T>C	XP_011520085.1:p.Phe31Ser
XM_011521783.3:c.92T>C	XP_011520085.1:p.Phe31Ser
XM_017022411.2:c.158T>C	XP_016877900.1:p.Phe53Ser
XM_017022412.1:c.92T>C	XP_016877901.1:p.Phe31Ser
NM_002755.4:c.158T>C MANE Select	NP_002746.1:p.Phe53Ser