Canonical Allele Identifier: CA304447624
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs995032926
gnomAD v2: 19-4095618-T-C
gnomAD v3: 19-4095620-T-C
gnomAD v4: 19-4095620-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4095620T>C , CM000681.2:g.4095620T>C GRCh38
NC_000019.9:g.4095618T>C , CM000681.1:g.4095618T>C GRCh37
NC_000019.8:g.4046618T>C NCBI36
NG_007996.1:g.33509A>G , LRG_750:g.33509A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1424-171A>G
ENST00000688002.1:n.3136-171A>G
ENST00000688751.1:n.121-171A>G
ENST00000689792.1:n.889-171A>G
ENST00000262948.10:c.985-171A>G MANE Select ENSP00000262948.4:n.985-171A>G
ENST00000262948.9:c.985-171A>G ENSP00000262948.3:n.985-171A>G
ENST00000394867.8:c.694-171A>G ENSP00000378336.1:n.694-171A>G
ENST00000595715.1:n.800-171A>G
ENST00000597263.5:n.170-171A>G
ENST00000599021.1:c.95-171A>G
ENST00000600584.5:n.1545-171A>G
ENST00000601786.5:n.1286-171A>G
NM_030662.3:c.985-171A>G , LRG_750t1:c.985-171A>G NP_109587.1:n.985-171A>G
XM_006722799.2:c.706-171A>G XP_006722862.1:n.706-171A>G
XM_011528133.1:c.415-171A>G XP_011526435.1:n.415-171A>G
XM_017026989.1:c.985-171A>G XP_016882478.1:n.985-171A>G
XM_017026990.1:c.706-171A>G XP_016882479.1:n.706-171A>G
NM_030662.4:c.985-171A>G MANE Select NP_109587.1:n.985-171A>G