Canonical Allele Identifier: CA6819570

Gene: HSPB8

Linked Data

• dbSNP Id: rs750727589
• ExAC: 12:119624808 G / A
• gnomAD v2: 12-119624808-G-A
• gnomAD v3: 12-119187003-G-A
• gnomAD v4: 12-119187003-G-A
• MyVariant Identifiers: chr12:g.119624808G>A (hg19) ; chr12:g.119187003G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119187003G>A , CM000674.2:g.119187003G>A	GRCh38
NC_000012.11:g.119624808G>A , CM000674.1:g.119624808G>A	GRCh37
NC_000012.10:g.118109191G>A	NCBI36
NG_007953.2:g.13214G>A , LRG_249:g.13214G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281938.7:c.368-22G>A MANE Select	ENSP00000281938.3:n.368-22G>A
ENST00000674542.1:c.368-6696G>A	ENSP00000502352.1:n.368-6696G>A
ENST00000674715.1:n.541-22G>A
ENST00000675900.1:n.21+4967G>A
ENST00000676071.1:n.101-22G>A
ENST00000676244.1:n.74-22G>A
ENST00000281938.6:c.368-22G>A	ENSP00000281938.2:n.368-22G>A
ENST00000541798.1:c.91-22G>A
ENST00000542496.1:n.204G>A
NM_014365.2:c.368-22G>A , LRG_249t1:c.368-22G>A	NP_055180.1:n.368-22G>A
NM_014365.3:c.368-22G>A MANE Select	NP_055180.1:n.368-22G>A