Canonical Allele Identifier: CA2102897
Gene: AAMP HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.218265791G>A
GRCh37 chr2:g.219130514G>A
gnomAD v2:
2:219130514 G / A
gnomAD v3:
2:218265791 G / A
gnomAD v4:
chr2-218265791-G-A
Joint Max Group AF 0.03608103 (MID)
Genomes Max Group AF 0.03307552 (AFR)
Exomes Max Group AF 0.03644606 (MID)
dbSNP:
1079204
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218265791G>A , CM000664.2:g.218265791G>A GRCh38
NC_000002.11:g.219130514G>A , CM000664.1:g.219130514G>A GRCh37
NC_000002.10:g.218838758G>A NCBI36
NG_017060.1:g.400G>A
NG_033036.1:g.9380C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248450.9:c.879+40C>T MANE Select ENSP00000248450.4:n.879+40C>T
ENST00000248450.8:c.879+40C>T ENSP00000248450.4:n.879+40C>T
ENST00000420660.5:c.822+40C>T ENSP00000416394.1:n.822+40C>T
ENST00000422731.1:c.143+40C>T
ENST00000444053.5:c.882+40C>T ENSP00000403343.1:n.882+40C>T
ENST00000465442.1:n.642C>T
ENST00000475678.5:n.1333C>T
ENST00000489767.5:n.949C>T
ENST00000494720.5:n.131C>T
NM_001087.4:c.879+40C>T NP_001078.2:n.879+40C>T
NM_001302545.1:c.882+40C>T NP_001289474.1:n.882+40C>T
XM_024452712.1:c.879+40C>T XP_024308480.1:n.879+40C>T
NM_001087.5:c.879+40C>T MANE Select NP_001078.2:n.879+40C>T
NM_001302545.2:c.882+40C>T NP_001289474.1:n.882+40C>T
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