Canonical Allele Identifier: CA2043493

Gene: HSPD1

Linked Data

• ClinVar Variation Id: 333308
• ClinVar RCV Id: RCV000358017 ; RCV003588617
• dbSNP Id: rs781462822
• ExAC: 2:198358036 A / G
• gnomAD v2: 2-198358036-A-G
• gnomAD v3: 2-197493312-A-G
• gnomAD v4: 2-197493312-A-G
• MyVariant Identifiers: chr2:g.198358036A>G (hg19) ; chr2:g.197493312A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197493312A>G , CM000664.2:g.197493312A>G	GRCh38
NC_000002.11:g.198358036A>G , CM000664.1:g.198358036A>G	GRCh37
NC_000002.10:g.198066281A>G	NCBI36
NG_008915.1:g.11963T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388968.8:c.869+12T>C MANE Select	ENSP00000373620.3:n.869+12T>C
ENST00000418022.2:c.869+12T>C	ENSP00000412227.2:n.869+12T>C
ENST00000426480.2:c.869+12T>C	ENSP00000414446.2:n.869+12T>C
ENST00000428204.6:c.869+12T>C	ENSP00000396460.2:n.869+12T>C
ENST00000439605.2:c.869+12T>C	ENSP00000402478.2:n.869+12T>C
ENST00000440114.2:c.*675+12T>C	ENSP00000390404.1:n.*675+12T>C
ENST00000452200.6:c.869+12T>C	ENSP00000412717.2:n.869+12T>C
ENST00000461097.2:n.3617+12T>C
ENST00000476746.6:n.1917+12T>C
ENST00000676933.1:c.773+12T>C	ENSP00000503144.1:n.773+12T>C
ENST00000677403.1:c.869+12T>C	ENSP00000504667.1:n.869+12T>C
ENST00000677454.1:c.869+12T>C	ENSP00000503295.1:n.869+12T>C
ENST00000677792.1:c.869+12T>C	ENSP00000504645.1:n.869+12T>C
ENST00000677913.1:c.869+12T>C	ENSP00000503139.1:n.869+12T>C
ENST00000678170.1:c.596+12T>C	ENSP00000503910.1:n.596+12T>C
ENST00000678545.1:c.869+12T>C	ENSP00000502920.1:n.869+12T>C
ENST00000678621.1:c.869+12T>C	ENSP00000504328.1:n.869+12T>C
ENST00000678761.1:c.869+12T>C	ENSP00000503894.1:n.869+12T>C
ENST00000678969.1:n.1510+12T>C
ENST00000679291.1:c.869+12T>C	ENSP00000504417.1:n.869+12T>C
ENST00000345042.6:c.869+12T>C	ENSP00000340019.2:n.869+12T>C
ENST00000388968.7:c.869+12T>C	ENSP00000373620.3:n.869+12T>C
NM_002156.4:c.869+12T>C	NP_002147.2:n.869+12T>C
NM_199440.1:c.869+12T>C	NP_955472.1:n.869+12T>C
XM_005246518.2:c.869+12T>C	XP_005246575.1:n.869+12T>C
NM_002156.5:c.869+12T>C MANE Select	NP_002147.2:n.869+12T>C
NM_199440.2:c.869+12T>C	NP_955472.1:n.869+12T>C