Canonical Allele Identifier: CA948669767
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs1302923629
gnomAD v3: 12-65958090-G-T
gnomAD v4: 12-65958090-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65958090G>T , CM000674.2:g.65958090G>T GRCh38
NC_000012.11:g.66351870G>T , CM000674.1:g.66351870G>T GRCh37
NC_000012.10:g.64638137G>T NCBI36
NG_016296.1:g.138631G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.283-5155G>T MANE Select ENSP00000384026.2:n.283-5155G>T
ENST00000403681.6:c.283-5155G>T ENSP00000384026.2:n.283-5155G>T
ENST00000539662.1:c.320-5155G>T ENSP00000440919.1:n.320-5155G>T
ENST00000541363.5:c.*6657G>T ENSP00000439317.1:n.*6657G>T
NM_003483.4:c.283-5155G>T NP_003474.1:n.283-5155G>T
NM_003483.6:c.283-5155G>T MANE Select NP_003474.1:n.283-5155G>T
Search 100 bp 5'
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