Canonical Allele Identifier: CA2585249511
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4117339-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4117339G>A , CM000681.2:g.4117339G>A GRCh38
NC_000019.9:g.4117337G>A , CM000681.1:g.4117337G>A GRCh37
NC_000019.8:g.4068337G>A NCBI36
NG_007996.1:g.11790C>T , LRG_750:g.11790C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.742+80C>T
ENST00000687128.1:n.742+80C>T
ENST00000262948.10:c.303+80C>T MANE Select ENSP00000262948.4:n.303+80C>T
ENST00000262948.9:c.303+80C>T ENSP00000262948.3:n.303+80C>T
ENST00000394867.8:c.12+80C>T ENSP00000378336.1:n.12+80C>T
ENST00000599345.1:n.500+80C>T
NM_030662.3:c.303+80C>T , LRG_750t1:c.303+80C>T NP_109587.1:n.303+80C>T
XM_006722799.2:c.303+80C>T XP_006722862.1:n.303+80C>T
XM_017026989.1:c.303+80C>T XP_016882478.1:n.303+80C>T
XM_017026990.1:c.303+80C>T XP_016882479.1:n.303+80C>T
XM_017026991.1:c.303+80C>T XP_016882480.1:n.303+80C>T
NM_030662.4:c.303+80C>T MANE Select NP_109587.1:n.303+80C>T