Canonical Allele Identifier: CA115642

Gene: HSPB8

Linked Data

• ClinVar Variation Id: 2617
• ClinVar RCV Id: RCV000002735
• dbSNP Id: rs104894345
• MyVariant Identifiers: chr12:g.119624885G>C (hg19) ; chr12:g.119187080G>C (hg38)
• PubMed: PMID:1517763 ; PMID:15122253 ; PMID:20301462

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119187080G>C , CM000674.2:g.119187080G>C	GRCh38
NC_000012.11:g.119624885G>C , CM000674.1:g.119624885G>C	GRCh37
NC_000012.10:g.118109268G>C	NCBI36
NG_007953.2:g.13291G>C , LRG_249:g.13291G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281938.7:c.423G>C MANE Select	ENSP00000281938.3:p.Lys141Asn
ENST00000674542.1:c.368-6619G>C	ENSP00000502352.1:n.368-6619G>C
ENST00000674715.1:n.596G>C
ENST00000674763.1:c.56G>C
ENST00000674852.1:c.56G>C
ENST00000675110.1:c.56G>C
ENST00000675211.1:c.56G>C
ENST00000675573.1:c.56G>C
ENST00000675900.1:n.21+5044G>C
ENST00000676071.1:n.156G>C
ENST00000676244.1:n.129G>C
ENST00000281938.6:c.423G>C	ENSP00000281938.2:p.Lys141Asn
ENST00000541798.1:c.146G>C
ENST00000542496.1:n.281G>C
NM_014365.2:c.423G>C , LRG_249t1:c.423G>C	NP_055180.1:p.Lys141Asn
NM_014365.3:c.423G>C MANE Select	NP_055180.1:p.Lys141Asn