Canonical Allele Identifier: CA350205902

Gene: HSPE1 HSPD1 HSPE1-MOB4

Linked Data

• ClinVar Variation Id: 3107399
• ClinVar RCV Id: RCV004404753
• MyVariant Identifiers: chr2:g.198367952A>T (hg19) ; chr2:g.197503228A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197503228A>T , CM000664.2:g.197503228A>T	GRCh38
NC_000002.11:g.198367952A>T , CM000664.1:g.198367952A>T	GRCh37
NC_000002.10:g.198076197A>T	NCBI36
NG_008914.1:g.8232A>T
NG_008915.1:g.2047T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233893.10:c.278A>T (HSPE1) MANE Select	ENSP00000233893.5:p.Asp93Val
ENST00000426480.2:c.-2-4378T>A (HSPD1)	ENSP00000414446.2:n.-2-4378T>A
ENST00000233893.9:c.278A>T (HSPE1)	ENSP00000233893.5:p.Asp93Val
ENST00000409468.1:c.*52A>T (HSPE1)	ENSP00000386447.1:n.*52A>T
ENST00000409729.1:c.113A>T (HSPE1)	ENSP00000387101.1:p.Asp38Val
ENST00000426480.1:c.125-4378T>A (HSPD1)	ENSP00000414446.1:n.125-4378T>A
ENST00000463841.1:n.547A>T (HSPE1)
ENST00000465573.1:n.486A>T (HSPE1)
ENST00000604458.1:c.168+1990A>T (HSPE1-MOB4)	ENSP00000474534.1:n.168+1990A>T
NM_001202485.1:c.168+1990A>T (HSPE1-MOB4)	NP_001189414.1:n.168+1990A>T
NM_002157.2:c.278A>T (HSPE1)	NP_002148.1:p.Asp93Val
NM_002157.3:c.278A>T (HSPE1) MANE Select	NP_002148.1:p.Asp93Val
NM_001202485.2:c.168+1990A>T (HSPE1-MOB4)	NP_001189414.1:n.168+1990A>T