Canonical Allele Identifier: CA2576573393
Gene: MAP2K2 HGNC NCBI

Linked Data

gnomAD v4: 19-4117348-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4117348C>T , CM000681.2:g.4117348C>T GRCh38
NC_000019.9:g.4117346C>T , CM000681.1:g.4117346C>T GRCh37
NC_000019.8:g.4068346C>T NCBI36
NG_007996.1:g.11781G>A , LRG_750:g.11781G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000394867.9:n.742+71G>A
ENST00000687128.1:n.742+71G>A
ENST00000262948.10:c.303+71G>A MANE Select ENSP00000262948.4:n.303+71G>A
ENST00000262948.9:c.303+71G>A ENSP00000262948.3:n.303+71G>A
ENST00000394867.8:c.12+71G>A ENSP00000378336.1:n.12+71G>A
ENST00000599345.1:n.500+71G>A
NM_030662.3:c.303+71G>A , LRG_750t1:c.303+71G>A NP_109587.1:n.303+71G>A
XM_006722799.2:c.303+71G>A XP_006722862.1:n.303+71G>A
XM_017026989.1:c.303+71G>A XP_016882478.1:n.303+71G>A
XM_017026990.1:c.303+71G>A XP_016882479.1:n.303+71G>A
XM_017026991.1:c.303+71G>A XP_016882480.1:n.303+71G>A
NM_030662.4:c.303+71G>A MANE Select NP_109587.1:n.303+71G>A