Canonical Allele Identifier: CA948666815

Gene: HMGA2

Linked Data

• gnomAD v3: 12-65949620-G-GTATTCTCTAATACTCGATTGGAATGTTTTTCTGCCTGCCTAACTTTCCAATC
• gnomAD v4: 12-65949620-G-GTATTCTCTAATACTCGATTGGAATGTTTTTCTGCCTGCCTAACTTTCCAATC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65949620_65949621insTATTCTCTAATACTCGATTGGAATGTTTTTCTGCCTGCCTAACTTTCCAATC , CM000674.2:g.65949620_65949621insTATTCTCTAATACTCGATTGGAATGTTTTTCTGCCTGCCTAACTTTCCAATC	GRCh38
NC_000012.11:g.66343400_66343401insTATTCTCTAATACTCGATTGGAATGTTTTTCTGCCTGCCTAACTTTCCAATC , CM000674.1:g.66343400_66343401insTATTCTCTAATACTCGATTGGAATGTTTTTCTGCCTGCCTAACTTTCCAATC	GRCh37
NC_000012.10:g.64629667_64629668insTATTCTCTAATACTCGATTGGAATGTTTTTCTGCCTGCCTAACTTTCCAATC	NCBI36
NG_016296.1:g.130161_130162insTATTCTCTAATACTCGATTGGAATGTTTTTCTGCCTGCCTAACTTTCCAATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403681.7:c.250-1763_250-1762insTATTCTCTAATACTCGATTGGAATGTTTTTCTGCCTGCCTAACTTTCCAATC MANE Select	ENSP00000384026.2:n.250-1763_250-1762insTATTCTCTAATACTCGATTGG...
ENST00000393577.7:c.250-1763_250-1762insTATTCTCTAATACTCGATTGGAATGTTTTTCTGCCTGCCTAACTTTCCAATC	ENSP00000377205.3:n.250-1763_250-1762insTATTCTCTAATACTCGATTGG...
ENST00000403681.6:c.250-1763_250-1762insTATTCTCTAATACTCGATTGGAATGTTTTTCTGCCTGCCTAACTTTCCAATC	ENSP00000384026.2:n.250-1763_250-1762insTATTCTCTAATACTCGATTGG...
ENST00000539662.1:c.287-1763_287-1762insTATTCTCTAATACTCGATTGGAATGTTTTTCTGCCTGCCTAACTTTCCAATC	ENSP00000440919.1:n.287-1763_287-1762insTATTCTCTAATACTCGATTGG...
ENST00000541363.5:c.250-1763_250-1762insTATTCTCTAATACTCGATTGGAATGTTTTTCTGCCTGCCTAACTTTCCAATC	ENSP00000439317.1:n.250-1763_250-1762insTATTCTCTAATACTCGATTGG...
NM_001300918.1:c.250-1763_250-1762insTATTCTCTAATACTCGATTGGAATGTTTTTCTGCCTGCCTAACTTTCCAATC	NP_001287847.1:n.250-1763_250-1762insTATTCTCTAATACTCGATTGGAAT...
NM_003483.4:c.250-1763_250-1762insTATTCTCTAATACTCGATTGGAATGTTTTTCTGCCTGCCTAACTTTCCAATC	NP_003474.1:n.250-1763_250-1762insTATTCTCTAATACTCGATTGGAATGTT...
NM_003483.6:c.250-1763_250-1762insTATTCTCTAATACTCGATTGGAATGTTTTTCTGCCTGCCTAACTTTCCAATC MANE Select	NP_003474.1:n.250-1763_250-1762insTATTCTCTAATACTCGATTGGAATGTT...