Canonical Allele Identifier: CA6275717

Gene: HSPB2 CRYAB HSPB2-C11orf52

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111913801A>G , CM000673.2:g.111913801A>G	GRCh38
NC_000011.9:g.111784525A>G , CM000673.1:g.111784525A>G	GRCh37
NC_000011.8:g.111289735A>G	NCBI36
NG_009824.2:g.14922T>C
NG_033080.1:g.6066A>G
NG_009824.3:g.14922T>C
NG_033080.2:g.6066A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001541.4:c.455A>G (HSPB2) MANE Select	NP_001532.1:p.His152Arg
ENST00000304298.4:c.455A>G (HSPB2) MANE Select	ENSP00000302476.3:p.His152Arg
NM_001368245.1:c.-198-1879T>C (CRYAB)	NP_001355174.1:n.-198-1879T>C
NM_001541.3:c.455A>G (HSPB2)	NP_001532.1:p.His152Arg
NR_037651.1:n.188+878A>G (HSPB2-C11orf52)
ENST00000304298.3:c.455A>G (HSPB2)	ENSP00000302476.3:p.His152Arg
ENST00000527616.1:c.455A>G (HSPB2-C11orf52)	ENSP00000457706.1:p.His152Arg
ENST00000527950.5:c.-198-1879T>C (CRYAB)	ENSP00000437149.1:n.-198-1879T>C
ENST00000533475.5:c.-402T>C (CRYAB)	ENSP00000433560.1:n.-402T>C
ENST00000533475.6:c.-402T>C (CRYAB)	ENSP00000433560.1:n.-402T>C
ENST00000533879.2:c.-294T>C (CRYAB)	ENSP00000435931.2:n.-294T>C
ENST00000534100.1:c.94+878A>G (HSPB2-C11orf52)	ENSP00000455839.1:n.94+878A>G