Canonical Allele Identifier: CA400850201
Community Standard Title: NM_002758.4(MAP2K6):c.169A>T (p.Met57Leu)
Gene: MAP2K6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.69517536A>T , CM000679.2:g.69517536A>T GRCh38
NC_000017.10:g.67513677A>T , CM000679.1:g.67513677A>T GRCh37
NC_000017.9:g.65025272A>T NCBI36
NG_029437.1:g.107840A>T
NG_029437.2:g.107840A>T

Transcript Alleles

HGVS Amino-acid Change
NM_002758.4:c.169A>T MANE Select NP_002749.2:p.Met57Leu
ENST00000590474.7:c.169A>T MANE Select ENSP00000468348.1:p.Met57Leu
NM_001330450.1:c.1A>T NP_001317379.1:p.Met1Leu
NM_001330450.2:c.1A>T NP_001317379.1:p.Met1Leu
NM_002758.3:c.169A>T NP_002749.2:p.Met57Leu
ENST00000359094.7:c.169A>T ENSP00000351997.3:p.Met57Leu
ENST00000586641.5:n.443A>T
ENST00000588110.5:c.178A>T ENSP00000464916.1:p.Met60Leu
ENST00000589295.5:c.1A>T ENSP00000466143.1:p.Met1Leu
ENST00000589647.5:c.1A>T ENSP00000467213.1:p.Met1Leu
ENST00000590474.5:c.169A>T ENSP00000468348.1:p.Met57Leu
ENST00000591445.1:n.485A>T
ENST00000613873.4:c.1A>T ENSP00000477701.1:p.Met1Leu
XM_005257515.1:c.1A>T XP_005257572.1:p.Met1Leu
XM_005257516.1:c.1A>T XP_005257573.1:p.Met1Leu
XM_005257516.2:c.1A>T XP_005257573.1:p.Met1Leu
XM_006721975.2:c.1A>T XP_006722038.1:p.Met1Leu
XM_006721975.3:c.1A>T XP_006722038.1:p.Met1Leu
XM_011525025.1:c.202A>T XP_011523327.1:p.Met68Leu
XM_011525026.1:c.178A>T XP_011523328.1:p.Met60Leu
XM_011525026.2:c.178A>T XP_011523328.1:p.Met60Leu
XM_011525027.1:c.1A>T XP_011523329.1:p.Met1Leu
XM_011525027.3:c.1A>T XP_011523329.1:p.Met1Leu