Canonical Allele Identifier: CA304447610
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs886863821
gnomAD v3: 19-4095597-A-G
gnomAD v4: 19-4095597-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4095597A>G , CM000681.2:g.4095597A>G GRCh38
NC_000019.9:g.4095595A>G , CM000681.1:g.4095595A>G GRCh37
NC_000019.8:g.4046595A>G NCBI36
NG_007996.1:g.33532T>C , LRG_750:g.33532T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1424-148T>C
ENST00000688002.1:n.3136-148T>C
ENST00000688751.1:n.121-148T>C
ENST00000689792.1:n.889-148T>C
ENST00000262948.10:c.985-148T>C MANE Select ENSP00000262948.4:n.985-148T>C
ENST00000262948.9:c.985-148T>C ENSP00000262948.3:n.985-148T>C
ENST00000394867.8:c.694-148T>C ENSP00000378336.1:n.694-148T>C
ENST00000595715.1:n.800-148T>C
ENST00000597263.5:n.170-148T>C
ENST00000599021.1:c.95-148T>C
ENST00000600584.5:n.1545-148T>C
ENST00000601786.5:n.1286-148T>C
NM_030662.3:c.985-148T>C , LRG_750t1:c.985-148T>C NP_109587.1:n.985-148T>C
XM_006722799.2:c.706-148T>C XP_006722862.1:n.706-148T>C
XM_011528133.1:c.415-148T>C XP_011526435.1:n.415-148T>C
XM_017026989.1:c.985-148T>C XP_016882478.1:n.985-148T>C
XM_017026990.1:c.706-148T>C XP_016882479.1:n.706-148T>C
NM_030662.4:c.985-148T>C MANE Select NP_109587.1:n.985-148T>C