Canonical Allele Identifier: CA115644

Gene: HSPB8

Linked Data

• ClinVar Variation Id: 2618
• ClinVar RCV Id: RCV000002736 ; RCV001216811 ; RCV001532719
• dbSNP Id: rs104894351
• MyVariant Identifiers: chr12:g.119624883A>G (hg19) ; chr12:g.119187078A>G (hg38)
• PubMed: PMID:15122253 ; PMID:20301462

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119187078A>G , CM000674.2:g.119187078A>G	GRCh38
NC_000012.11:g.119624883A>G , CM000674.1:g.119624883A>G	GRCh37
NC_000012.10:g.118109266A>G	NCBI36
NG_007953.2:g.13289A>G , LRG_249:g.13289A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281938.7:c.421A>G MANE Select	ENSP00000281938.3:p.Lys141Glu
ENST00000674542.1:c.368-6621A>G	ENSP00000502352.1:n.368-6621A>G
ENST00000674715.1:n.594A>G
ENST00000674763.1:c.54A>G
ENST00000674852.1:c.54A>G
ENST00000675110.1:c.54A>G
ENST00000675211.1:c.54A>G
ENST00000675573.1:c.54A>G
ENST00000675900.1:n.21+5042A>G
ENST00000676071.1:n.154A>G
ENST00000676244.1:n.127A>G
ENST00000281938.6:c.421A>G	ENSP00000281938.2:p.Lys141Glu
ENST00000541798.1:c.144A>G
ENST00000542496.1:n.279A>G
NM_014365.2:c.421A>G , LRG_249t1:c.421A>G	NP_055180.1:p.Lys141Glu
NM_014365.3:c.421A>G MANE Select	NP_055180.1:p.Lys141Glu