Canonical Allele Identifier: CA490862029

Gene: MAP2K1 SNAPC5

Linked Data

• gnomAD v4: 15-66490537-A-G
• MyVariant Identifiers: chr15:g.66782875A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490537A>G , CM000677.2:g.66490537A>G	GRCh38
NC_000015.9:g.66782875A>G , CM000677.1:g.66782875A>G	GRCh37
NC_000015.8:g.64569929A>G	NCBI36
NG_008305.1:g.108665A>G , LRG_725:g.108665A>G
NG_051234.1:g.12279T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*152A>G (MAP2K1)	ENSP00000508681.1:n.*152A>G
ENST00000685172.1:c.1058A>G (MAP2K1)	ENSP00000509604.1:p.Lys353Arg
ENST00000685763.1:c.957A>G (MAP2K1)	ENSP00000509016.1:p.Glu319=
ENST00000686347.1:c.777A>G (MAP2K1)	ENSP00000509027.1:p.Glu259=
ENST00000687191.1:n.3384A>G (MAP2K1)
ENST00000687481.1:n.519A>G (MAP2K1)
ENST00000688689.1:n.859A>G (MAP2K1)
ENST00000689951.1:c.1155A>G (MAP2K1)	ENSP00000509308.1:p.Glu385=
ENST00000691077.1:c.*2263A>G (MAP2K1)	ENSP00000509843.1:n.*2263A>G
ENST00000691576.1:c.975A>G (MAP2K1)	ENSP00000510066.1:p.Glu325=
ENST00000691937.1:c.*85A>G (MAP2K1)	ENSP00000508768.1:n.*85A>G
ENST00000692487.1:c.*2704A>G (MAP2K1)	ENSP00000509534.1:n.*2704A>G
ENST00000692683.1:c.1038A>G (MAP2K1)	ENSP00000508437.1:p.Glu346=
ENST00000693150.1:c.960A>G (MAP2K1)	ENSP00000510309.1:p.Glu320=
ENST00000307102.10:c.1104A>G (MAP2K1) MANE Select	ENSP00000302486.5:p.Glu368=
ENST00000307102.9:c.1104A>G (MAP2K1)	ENSP00000302486.4:p.Glu368=
ENST00000395589.6:c.*202T>C (SNAPC5)	ENSP00000378954.2:n.*202T>C
ENST00000563480.6:c.*202T>C (SNAPC5)	ENSP00000457892.1:n.*202T>C
ENST00000566326.1:c.576A>G (MAP2K1)	ENSP00000456438.1:p.Glu192=
NM_002755.3:c.1104A>G , LRG_725t1:c.1104A>G (MAP2K1)	NP_002746.1:p.Glu368=
NM_006049.2:c.*202T>C (SNAPC5)	NP_006040.1:n.*202T>C
XM_011521783.1:c.1038A>G (MAP2K1)	XP_011520085.1:p.Glu346=
NM_006049.3:c.*202T>C (SNAPC5)	NP_006040.1:n.*202T>C
NR_138061.1:n.721T>C (SNAPC5)
XM_011521783.3:c.1038A>G (MAP2K1)	XP_011520085.1:p.Glu346=
XM_017022411.2:c.1026A>G (MAP2K1)	XP_016877900.1:p.Glu342=
XM_017022412.1:c.960A>G (MAP2K1)	XP_016877901.1:p.Glu320=
XM_017022413.1:c.576A>G (MAP2K1)	XP_016877902.1:p.Glu192=
NM_002755.4:c.1104A>G (MAP2K1) MANE Select	NP_002746.1:p.Glu368=
NM_006049.4:c.*202T>C (SNAPC5)	NP_006040.1:n.*202T>C
NR_138061.2:n.668T>C (SNAPC5)