Canonical Allele Identifier: CA10612285

Gene: HSPD1

Linked Data

• ClinVar Variation Id: 333316
• ClinVar RCV Id: RCV000309916
• dbSNP Id: rs886055390
• gnomAD v2: 2-198364631-G-C
• gnomAD v3: 2-197499907-G-C
• gnomAD v4: 2-197499907-G-C
• MyVariant Identifiers: chr2:g.198364631G>C (hg19) ; chr2:g.197499907G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197499907G>C , CM000664.2:g.197499907G>C	GRCh38
NC_000002.11:g.198364631G>C , CM000664.1:g.198364631G>C	GRCh37
NC_000002.10:g.198072876G>C	NCBI36
NG_008914.1:g.4911G>C
NG_008915.1:g.5368C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426480.2:c.-2-1057C>G	ENSP00000414446.2:n.-2-1057C>G
ENST00000430176.6:c.-3+253C>G	ENSP00000393670.2:n.-3+253C>G
ENST00000452200.6:c.-3+92C>G	ENSP00000412717.2:n.-3+92C>G
ENST00000677403.1:c.-128C>G	ENSP00000504667.1:n.-128C>G
ENST00000678545.1:c.-128C>G	ENSP00000502920.1:n.-128C>G
ENST00000678621.1:c.-128C>G	ENSP00000504328.1:n.-128C>G
ENST00000679291.1:c.-3+92C>G	ENSP00000504417.1:n.-3+92C>G
ENST00000345042.6:c.-3+253C>G	ENSP00000340019.2:n.-3+253C>G
ENST00000388968.7:c.-128C>G	ENSP00000373620.3:n.-128C>G
ENST00000426480.1:c.125-1057C>G	ENSP00000414446.1:n.125-1057C>G
ENST00000430176.5:c.-3+253C>G	ENSP00000393670.1:n.-3+253C>G
ENST00000452200.5:c.-3+92C>G	ENSP00000412717.1:n.-3+92C>G
NM_002156.4:c.-128C>G	NP_002147.2:n.-128C>G
NM_199440.1:c.-3+253C>G	NP_955472.1:n.-3+253C>G
XM_005246518.2:c.-3+92C>G	XP_005246575.1:n.-3+92C>G
NM_199440.2:c.-3+253C>G	NP_955472.1:n.-3+253C>G