Canonical Allele Identifier: CA238995677
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs76013304
gnomAD v2: 12-66351858-C-T
gnomAD v3: 12-65958078-C-T
gnomAD v4: 12-65958078-C-T
MyVariant Identifiers: chr12:g.66351858C>T (hg19) chr12:g.65958078C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65958078C>T , CM000674.2:g.65958078C>T GRCh38
NC_000012.11:g.66351858C>T , CM000674.1:g.66351858C>T GRCh37
NC_000012.10:g.64638125C>T NCBI36
NG_016296.1:g.138619C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.283-5167C>T MANE Select ENSP00000384026.2:n.283-5167C>T
ENST00000403681.6:c.283-5167C>T ENSP00000384026.2:n.283-5167C>T
ENST00000539662.1:c.320-5167C>T ENSP00000440919.1:n.320-5167C>T
ENST00000541363.5:c.*6645C>T ENSP00000439317.1:n.*6645C>T
NM_003483.4:c.283-5167C>T NP_003474.1:n.283-5167C>T
NM_003483.6:c.283-5167C>T MANE Select NP_003474.1:n.283-5167C>T
Search 100 bp 5'
Search 100 bp 3'