Canonical Allele Identifier: CA684297973

Gene: HSPB8

Linked Data

• dbSNP Id: rs549655856
• gnomAD v4: 12-119187107-T-G
• MyVariant Identifiers: chr12:g.119624912T>G (hg19) ; chr12:g.119187107T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119187107T>G , CM000674.2:g.119187107T>G	GRCh38
NC_000012.11:g.119624912T>G , CM000674.1:g.119624912T>G	GRCh37
NC_000012.10:g.118109295T>G	NCBI36
NG_007953.2:g.13318T>G , LRG_249:g.13318T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281938.7:c.431+19T>G MANE Select	ENSP00000281938.3:n.431+19T>G
ENST00000674542.1:c.368-6592T>G	ENSP00000502352.1:n.368-6592T>G
ENST00000674715.1:n.604+19T>G
ENST00000674763.1:c.64+19T>G
ENST00000674852.1:c.64+19T>G
ENST00000675110.1:c.64+19T>G
ENST00000675211.1:c.64+19T>G
ENST00000675573.1:c.64+19T>G
ENST00000675900.1:n.21+5071T>G
ENST00000676071.1:n.164+19T>G
ENST00000676244.1:n.137+19T>G
ENST00000281938.6:c.431+19T>G	ENSP00000281938.2:n.431+19T>G
ENST00000541798.1:c.154+19T>G
ENST00000542496.1:n.289+19T>G
NM_014365.2:c.431+19T>G , LRG_249t1:c.431+19T>G	NP_055180.1:n.431+19T>G
NM_014365.3:c.431+19T>G MANE Select	NP_055180.1:n.431+19T>G