Canonical Allele Identifier: CA631541526
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1263179171
gnomAD v2: 19-4110460-C-G
gnomAD v4: 19-4110462-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4110462C>G , CM000681.2:g.4110462C>G GRCh38
NC_000019.9:g.4110460C>G , CM000681.1:g.4110460C>G GRCh37
NC_000019.8:g.4061460C>G NCBI36
NG_007996.1:g.18667G>C , LRG_750:g.18667G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.889+47G>C
ENST00000687128.1:n.889+47G>C
ENST00000262948.10:c.450+47G>C MANE Select ENSP00000262948.4:n.450+47G>C
ENST00000262948.9:c.450+47G>C ENSP00000262948.3:n.450+47G>C
ENST00000394867.8:c.159+47G>C ENSP00000378336.1:n.159+47G>C
ENST00000599345.1:n.647+47G>C
NM_030662.3:c.450+47G>C , LRG_750t1:c.450+47G>C NP_109587.1:n.450+47G>C
XM_006722799.2:c.450+47G>C XP_006722862.1:n.450+47G>C
XM_017026989.1:c.450+47G>C XP_016882478.1:n.450+47G>C
XM_017026990.1:c.450+47G>C XP_016882479.1:n.450+47G>C
XM_017026991.1:c.450+47G>C XP_016882480.1:n.450+47G>C
NM_030662.4:c.450+47G>C MANE Select NP_109587.1:n.450+47G>C