Canonical Allele Identifier: CA647758629

Gene: HSPE1 HSPD1 HSPE1-MOB4

Linked Data

• dbSNP Id: rs1432000323
• gnomAD v4: 2-197500974-T-G
• COSMIC: COSN1817313 ; COSN6163000
• MyVariant Identifiers: chr2:g.198365698T>G (hg19) ; chr2:g.197500974T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197500974T>G , CM000664.2:g.197500974T>G	GRCh38
NC_000002.11:g.198365698T>G , CM000664.1:g.198365698T>G	GRCh37
NC_000002.10:g.198073943T>G	NCBI36
NG_008914.1:g.5978T>G
NG_008915.1:g.4301A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000233893.10:c.4-100T>G (HSPE1) MANE Select	ENSP00000233893.5:n.4-100T>G
ENST00000426480.2:c.-2-2124A>C (HSPD1)	ENSP00000414446.2:n.-2-2124A>C
ENST00000233893.9:c.4-100T>G (HSPE1)	ENSP00000233893.5:n.4-100T>G
ENST00000409468.1:c.4-100T>G (HSPE1)	ENSP00000386447.1:n.4-100T>G
ENST00000409729.1:c.3+535T>G (HSPE1)	ENSP00000387101.1:n.3+535T>G
ENST00000426480.1:c.125-2124A>C (HSPD1)	ENSP00000414446.1:n.125-2124A>C
ENST00000463841.1:n.93T>G (HSPE1)
ENST00000465573.1:n.376+56T>G (HSPE1)
ENST00000473395.1:n.92-100T>G (HSPE1)
ENST00000495200.1:n.481+56T>G (HSPE1)
ENST00000604458.1:c.4-100T>G (HSPE1-MOB4)	ENSP00000474534.1:n.4-100T>G
NM_001202485.1:c.4-100T>G (HSPE1-MOB4)	NP_001189414.1:n.4-100T>G
NM_002157.2:c.4-100T>G (HSPE1)	NP_002148.1:n.4-100T>G
NM_002157.3:c.4-100T>G (HSPE1) MANE Select	NP_002148.1:n.4-100T>G
NM_001202485.2:c.4-100T>G (HSPE1-MOB4)	NP_001189414.1:n.4-100T>G