Canonical Allele Identifier: CA10625956
Gene: HOXA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 359986
ClinVar RCV Id: RCV000340252
dbSNP Id: rs546333732
gnomAD v2: 7-27142255-T-C
gnomAD v3: 7-27102636-T-C
gnomAD v4: 7-27102636-T-C
MyVariant Identifiers: chr7:g.27142255T>C (hg19) chr7:g.27102636T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27102636T>C , CM000669.2:g.27102636T>C GRCh38
NC_000007.13:g.27142255T>C , CM000669.1:g.27142255T>C GRCh37
NC_000007.12:g.27108780T>C NCBI36
NG_012078.1:g.5140A>G
NG_012078.2:g.5140A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222718.7:c.-136A>G MANE Select ENSP00000222718.5:n.-136A>G
ENST00000222718.6:c.-136A>G ENSP00000222718.5:n.-136A>G
ENST00000612779.1:n.51A>G
NM_006735.3:c.-136A>G NP_006726.1:n.-136A>G
NM_006735.4:c.-136A>G MANE Select NP_006726.1:n.-136A>G
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