Canonical Allele Identifier: CA2043298

Gene: HSPD1

Linked Data

• ClinVar Variation Id: 2682605
• ClinVar RCV Id: RCV003479978
• dbSNP Id: rs776425415
• ExAC: 2:198351754 A / G
• gnomAD v2: 2-198351754-A-G
• gnomAD v3: 2-197487030-A-G
• gnomAD v4: 2-197487030-A-G
• MyVariant Identifiers: chr2:g.198351754A>G (hg19) ; chr2:g.197487030A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197487030A>G , CM000664.2:g.197487030A>G	GRCh38
NC_000002.11:g.198351754A>G , CM000664.1:g.198351754A>G	GRCh37
NC_000002.10:g.198059999A>G	NCBI36
NG_008915.1:g.18245T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388968.8:c.*16T>C MANE Select	ENSP00000373620.3:n.*16T>C
ENST00000418022.2:c.*16T>C	ENSP00000412227.2:n.*16T>C
ENST00000426480.2:c.*16T>C	ENSP00000414446.2:n.*16T>C
ENST00000428204.6:c.*16T>C	ENSP00000396460.2:n.*16T>C
ENST00000439605.2:c.*16T>C	ENSP00000402478.2:n.*16T>C
ENST00000440114.2:c.*1544T>C	ENSP00000390404.1:n.*1544T>C
ENST00000452200.6:c.*16T>C	ENSP00000412717.2:n.*16T>C
ENST00000461097.2:n.4486T>C
ENST00000476746.6:n.2786T>C
ENST00000676933.1:c.*16T>C	ENSP00000503144.1:n.*16T>C
ENST00000677403.1:c.*734T>C	ENSP00000504667.1:n.*734T>C
ENST00000677454.1:c.1876T>C	ENSP00000503295.1:n.1876T>C
ENST00000677792.1:c.*747T>C	ENSP00000504645.1:n.*747T>C
ENST00000677913.1:c.*16T>C	ENSP00000503139.1:n.*16T>C
ENST00000678170.1:c.*16T>C	ENSP00000503910.1:n.*16T>C
ENST00000678545.1:c.*1048T>C	ENSP00000502920.1:n.*1048T>C
ENST00000678621.1:c.*216T>C	ENSP00000504328.1:n.*216T>C
ENST00000678761.1:c.*16T>C	ENSP00000503894.1:n.*16T>C
ENST00000678969.1:n.3328T>C
ENST00000679291.1:c.*747T>C	ENSP00000504417.1:n.*747T>C
ENST00000345042.6:c.*16T>C	ENSP00000340019.2:n.*16T>C
ENST00000388968.7:c.*16T>C	ENSP00000373620.3:n.*16T>C
NM_002156.4:c.*16T>C	NP_002147.2:n.*16T>C
NM_199440.1:c.*16T>C	NP_955472.1:n.*16T>C
XM_005246518.2:c.*16T>C	XP_005246575.1:n.*16T>C
NM_002156.5:c.*16T>C MANE Select	NP_002147.2:n.*16T>C
NM_199440.2:c.*16T>C	NP_955472.1:n.*16T>C