Canonical Allele Identifier: CA62861857

Gene: HSPE1 HSPD1 HSPE1-MOB4

Linked Data

• dbSNP Id: rs1055682246
• gnomAD v3: 2-197500875-C-T
• gnomAD v4: 2-197500875-C-T
• MyVariant Identifiers: chr2:g.198365599C>T (hg19) ; chr2:g.197500875C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197500875C>T , CM000664.2:g.197500875C>T	GRCh38
NC_000002.11:g.198365599C>T , CM000664.1:g.198365599C>T	GRCh37
NC_000002.10:g.198073844C>T	NCBI36
NG_008914.1:g.5879C>T
NG_008915.1:g.4400G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000233893.10:c.4-199C>T (HSPE1) MANE Select	ENSP00000233893.5:n.4-199C>T
ENST00000426480.2:c.-2-2025G>A (HSPD1)	ENSP00000414446.2:n.-2-2025G>A
ENST00000233893.9:c.4-199C>T (HSPE1)	ENSP00000233893.5:n.4-199C>T
ENST00000409468.1:c.4-199C>T (HSPE1)	ENSP00000386447.1:n.4-199C>T
ENST00000409729.1:c.3+436C>T (HSPE1)	ENSP00000387101.1:n.3+436C>T
ENST00000426480.1:c.125-2025G>A (HSPD1)	ENSP00000414446.1:n.125-2025G>A
ENST00000465573.1:n.333C>T (HSPE1)
ENST00000473395.1:n.92-199C>T (HSPE1)
ENST00000495200.1:n.438C>T (HSPE1)
ENST00000604458.1:c.4-199C>T (HSPE1-MOB4)	ENSP00000474534.1:n.4-199C>T
NM_001202485.1:c.4-199C>T (HSPE1-MOB4)	NP_001189414.1:n.4-199C>T
NM_002157.2:c.4-199C>T (HSPE1)	NP_002148.1:n.4-199C>T
NM_002157.3:c.4-199C>T (HSPE1) MANE Select	NP_002148.1:n.4-199C>T
NM_001202485.2:c.4-199C>T (HSPE1-MOB4)	NP_001189414.1:n.4-199C>T