Canonical Allele Identifier: CA948669720
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs1876649105
gnomAD v3: 12-65958009-G-T
gnomAD v4: 12-65958009-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65958009G>T , CM000674.2:g.65958009G>T GRCh38
NC_000012.11:g.66351789G>T , CM000674.1:g.66351789G>T GRCh37
NC_000012.10:g.64638056G>T NCBI36
NG_016296.1:g.138550G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000403681.7:c.283-5236G>T MANE Select ENSP00000384026.2:n.283-5236G>T
ENST00000403681.6:c.283-5236G>T ENSP00000384026.2:n.283-5236G>T
ENST00000539662.1:c.320-5236G>T ENSP00000440919.1:n.320-5236G>T
ENST00000541363.5:c.*6576G>T ENSP00000439317.1:n.*6576G>T
NM_003483.4:c.283-5236G>T NP_003474.1:n.283-5236G>T
NM_003483.6:c.283-5236G>T MANE Select NP_003474.1:n.283-5236G>T
Search 100 bp 5'
Search 100 bp 3'