Canonical Allele Identifier: CA430561945

Gene: HSPE1 HSPD1 HSPE1-MOB4

Linked Data

• dbSNP Id: rs918245126
• gnomAD v2: 2-198365803-A-G
• MyVariant Identifiers: chr2:g.198365803A>G (hg19) ; chr2:g.197501079A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197501079A>G , CM000664.2:g.197501079A>G	GRCh38
NC_000002.11:g.198365803A>G , CM000664.1:g.198365803A>G	GRCh37
NC_000002.10:g.198074048A>G	NCBI36
NG_008914.1:g.6083A>G
NG_008915.1:g.4196T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233893.10:c.9A>G (HSPE1) MANE Select	ENSP00000233893.5:p.Gly3=
ENST00000426480.2:c.-2-2229T>C (HSPD1)	ENSP00000414446.2:n.-2-2229T>C
ENST00000233893.9:c.9A>G (HSPE1)	ENSP00000233893.5:p.Gly3=
ENST00000409468.1:c.9A>G (HSPE1)	ENSP00000386447.1:p.Gly3=
ENST00000409729.1:c.3+640A>G (HSPE1)	ENSP00000387101.1:n.3+640A>G
ENST00000426480.1:c.125-2229T>C (HSPD1)	ENSP00000414446.1:n.125-2229T>C
ENST00000463841.1:n.198A>G (HSPE1)
ENST00000465573.1:n.376+161A>G (HSPE1)
ENST00000473395.1:n.97A>G (HSPE1)
ENST00000495200.1:n.487A>G (HSPE1)
ENST00000604458.1:c.9A>G (HSPE1-MOB4)	ENSP00000474534.1:p.Gly3=
NM_001202485.1:c.9A>G (HSPE1-MOB4)	NP_001189414.1:p.Gly3=
NM_002157.2:c.9A>G (HSPE1)	NP_002148.1:p.Gly3=
NM_002157.3:c.9A>G (HSPE1) MANE Select	NP_002148.1:p.Gly3=
NM_001202485.2:c.9A>G (HSPE1-MOB4)	NP_001189414.1:p.Gly3=