Canonical Allele Identifier: CA1613643

Gene: HEATR5B

Linked Data

• dbSNP Id: rs17020136
• ExAC: 2:37248015 T / C
• gnomAD v2: 2-37248015-T-C
• gnomAD v3: 2-37020872-T-C
• gnomAD v4: 2-37020872-T-C
• MyVariant Identifiers: chr2:g.37248015T>C (hg19) ; chr2:g.37020872T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.37020872T>C , CM000664.2:g.37020872T>C	GRCh38
NC_000002.11:g.37248015T>C , CM000664.1:g.37248015T>C	GRCh37
NC_000002.10:g.37101519T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000233099.6:c.3854-36A>G MANE Select	ENSP00000233099.5:n.3854-36A>G
ENST00000233099.5:c.3854-36A>G	ENSP00000233099.5:n.3854-36A>G
NM_019024.2:c.3854-36A>G	NP_061897.1:n.3854-36A>G
XM_005264379.1:c.3854-36A>G	XP_005264436.1:n.3854-36A>G
XM_006712034.2:c.3854-36A>G	XP_006712097.1:n.3854-36A>G
XM_006712035.2:c.3818-36A>G	XP_006712098.1:n.3818-36A>G
XM_011532934.1:c.3854-36A>G	XP_011531236.1:n.3854-36A>G
XM_011532935.1:c.2003-36A>G	XP_011531237.1:n.2003-36A>G
XM_006712035.4:c.3818-36A>G	XP_006712098.1:n.3818-36A>G
XM_011532934.3:c.3854-36A>G	XP_011531236.1:n.3854-36A>G
XM_011532935.3:c.2003-36A>G	XP_011531237.1:n.2003-36A>G
XM_017004378.1:c.3854-36A>G	XP_016859867.1:n.3854-36A>G
XM_017004379.2:c.3479-36A>G	XP_016859868.1:n.3479-36A>G
XM_017004380.2:c.3479-36A>G	XP_016859869.1:n.3479-36A>G
XR_001738786.1:n.3892-36A>G
XR_001738787.1:n.4413-36A>G
XR_001738788.1:n.5381-36A>G
XR_001738789.1:n.3892-995A>G
XR_001738790.1:n.3892-995A>G
NM_019024.3:c.3854-36A>G MANE Select	NP_061897.1:n.3854-36A>G