Canonical Allele Identifier: CA2585249252
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs529263334
gnomAD v4: 19-4110468-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4110468C>A , CM000681.2:g.4110468C>A GRCh38
NC_000019.9:g.4110466C>A , CM000681.1:g.4110466C>A GRCh37
NC_000019.8:g.4061466C>A NCBI36
NG_007996.1:g.18661G>T , LRG_750:g.18661G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.889+41G>T
ENST00000687128.1:n.889+41G>T
ENST00000262948.10:c.450+41G>T MANE Select ENSP00000262948.4:n.450+41G>T
ENST00000262948.9:c.450+41G>T ENSP00000262948.3:n.450+41G>T
ENST00000394867.8:c.159+41G>T ENSP00000378336.1:n.159+41G>T
ENST00000599345.1:n.647+41G>T
NM_030662.3:c.450+41G>T , LRG_750t1:c.450+41G>T NP_109587.1:n.450+41G>T
XM_006722799.2:c.450+41G>T XP_006722862.1:n.450+41G>T
XM_017026989.1:c.450+41G>T XP_016882478.1:n.450+41G>T
XM_017026990.1:c.450+41G>T XP_016882479.1:n.450+41G>T
XM_017026991.1:c.450+41G>T XP_016882480.1:n.450+41G>T
NM_030662.4:c.450+41G>T MANE Select NP_109587.1:n.450+41G>T