Canonical Allele Identifier: CA304447608
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs558405455
gnomAD v2: 19-4095591-T-C
gnomAD v3: 19-4095593-T-C
gnomAD v4: 19-4095593-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4095593T>C , CM000681.2:g.4095593T>C GRCh38
NC_000019.9:g.4095591T>C , CM000681.1:g.4095591T>C GRCh37
NC_000019.8:g.4046591T>C NCBI36
NG_007996.1:g.33536A>G , LRG_750:g.33536A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1424-144A>G
ENST00000688002.1:n.3136-144A>G
ENST00000688751.1:n.121-144A>G
ENST00000689792.1:n.889-144A>G
ENST00000262948.10:c.985-144A>G MANE Select ENSP00000262948.4:n.985-144A>G
ENST00000262948.9:c.985-144A>G ENSP00000262948.3:n.985-144A>G
ENST00000394867.8:c.694-144A>G ENSP00000378336.1:n.694-144A>G
ENST00000595715.1:n.800-144A>G
ENST00000597263.5:n.170-144A>G
ENST00000599021.1:c.95-144A>G
ENST00000600584.5:n.1545-144A>G
ENST00000601786.5:n.1286-144A>G
NM_030662.3:c.985-144A>G , LRG_750t1:c.985-144A>G NP_109587.1:n.985-144A>G
XM_006722799.2:c.706-144A>G XP_006722862.1:n.706-144A>G
XM_011528133.1:c.415-144A>G XP_011526435.1:n.415-144A>G
XM_017026989.1:c.985-144A>G XP_016882478.1:n.985-144A>G
XM_017026990.1:c.706-144A>G XP_016882479.1:n.706-144A>G
NM_030662.4:c.985-144A>G MANE Select NP_109587.1:n.985-144A>G