Canonical Allele Identifier: CA14084641
Gene: MAP2K5 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.67543173T>C
GRCh37 chr15:g.67835511T>C
gnomAD v2:
15:67835511 T / C
gnomAD v3:
15:67543173 T / C
gnomAD v4:
chr15-67543173-T-C
Joint Max Group AF 0.25522725 (AFR)
Genomes Max Group AF 0.25693718 (AFR)
Exomes Max Group AF 0.24538647 (AFR)
dbSNP:
3743354
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67543173T>C , CM000677.2:g.67543173T>C GRCh38
NC_000015.9:g.67835511T>C , CM000677.1:g.67835511T>C GRCh37
NC_000015.8:g.65622565T>C NCBI36
NG_029143.1:g.5491T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000178640.10:c.-163T>C MANE Select ENSP00000178640.5:n.-163T>C
ENST00000178640.9:c.-163T>C ENSP00000178640.5:n.-163T>C
NM_002757.3:c.-163T>C NP_002748.1:n.-163T>C
NM_145160.2:c.-163T>C NP_660143.1:n.-163T>C
XM_011521784.1:c.-163T>C XP_011520086.1:n.-163T>C
XM_011521785.1:c.-163T>C XP_011520087.1:n.-163T>C
XM_011521786.1:c.-163T>C XP_011520088.1:n.-163T>C
XM_011521787.1:c.-163T>C XP_011520089.1:n.-163T>C
XM_011521788.1:c.-163T>C XP_011520090.1:n.-163T>C
XM_011521787.3:c.-163T>C XP_011520089.1:n.-163T>C
XM_011521788.3:c.-163T>C XP_011520090.1:n.-163T>C
XM_017022414.2:c.-163T>C XP_016877903.1:n.-163T>C
XM_024449988.1:c.-801T>C XP_024305756.1:n.-801T>C
XR_001751355.2:n.489T>C
NM_145160.3:c.-163T>C MANE Select NP_660143.1:n.-163T>C
NM_002757.4:c.-163T>C NP_002748.1:n.-163T>C
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