Canonical Allele Identifier: CA538916957

Gene: HSPE1 HSPD1 HSPE1-MOB4

Linked Data

• dbSNP Id: rs1378018952
• gnomAD v2: 2-198365721-T-C
• gnomAD v4: 2-197500997-T-C
• MyVariant Identifiers: chr2:g.198365721T>C (hg19) ; chr2:g.197500997T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.197500997T>C , CM000664.2:g.197500997T>C	GRCh38
NC_000002.11:g.198365721T>C , CM000664.1:g.198365721T>C	GRCh37
NC_000002.10:g.198073966T>C	NCBI36
NG_008914.1:g.6001T>C
NG_008915.1:g.4278A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233893.10:c.4-77T>C (HSPE1) MANE Select	ENSP00000233893.5:n.4-77T>C
ENST00000426480.2:c.-2-2147A>G (HSPD1)	ENSP00000414446.2:n.-2-2147A>G
ENST00000233893.9:c.4-77T>C (HSPE1)	ENSP00000233893.5:n.4-77T>C
ENST00000409468.1:c.4-77T>C (HSPE1)	ENSP00000386447.1:n.4-77T>C
ENST00000409729.1:c.3+558T>C (HSPE1)	ENSP00000387101.1:n.3+558T>C
ENST00000426480.1:c.125-2147A>G (HSPD1)	ENSP00000414446.1:n.125-2147A>G
ENST00000463841.1:n.116T>C (HSPE1)
ENST00000465573.1:n.376+79T>C (HSPE1)
ENST00000473395.1:n.92-77T>C (HSPE1)
ENST00000495200.1:n.482-77T>C (HSPE1)
ENST00000604458.1:c.4-77T>C (HSPE1-MOB4)	ENSP00000474534.1:n.4-77T>C
NM_001202485.1:c.4-77T>C (HSPE1-MOB4)	NP_001189414.1:n.4-77T>C
NM_002157.2:c.4-77T>C (HSPE1)	NP_002148.1:n.4-77T>C
NM_002157.3:c.4-77T>C (HSPE1) MANE Select	NP_002148.1:n.4-77T>C
NM_001202485.2:c.4-77T>C (HSPE1-MOB4)	NP_001189414.1:n.4-77T>C