Canonical Allele Identifier: CA13396835

Gene: CRYAB HSPB2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111912376T>C , CM000673.2:g.111912376T>C	GRCh38
NC_000011.9:g.111783100T>C , CM000673.1:g.111783100T>C	GRCh37
NC_000011.8:g.111288310T>C	NCBI36
NG_009824.2:g.16347A>G
NG_033080.1:g.4641T>C
NG_009824.3:g.16347A>G
NG_033080.2:g.4641T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526180.6:c.-224-428A>G (CRYAB)	ENSP00000436051.1:n.-224-428A>G
ENST00000527899.6:c.-198-454A>G (CRYAB)	ENSP00000436089.2:n.-198-454A>G
ENST00000533475.6:c.-198-454A>G (CRYAB)	ENSP00000433560.1:n.-198-454A>G
ENST00000533879.2:c.-198-454A>G (CRYAB)	ENSP00000435931.2:n.-198-454A>G
ENST00000533971.2:c.-198-454A>G (CRYAB)	ENSP00000434269.1:n.-198-454A>G
ENST00000616970.5:c.-198-454A>G (CRYAB)	ENSP00000483554.1:n.-198-454A>G
ENST00000652223.1:n.115-454A>G (CRYAB)
ENST00000652606.1:n.47-454A>G (CRYAB)
ENST00000304298.3:c.-454T>C (HSPB2)	ENSP00000302476.3:n.-454T>C
ENST00000527899.5:c.-198-454A>G (CRYAB)	ENSP00000436089.1:n.-198-454A>G
ENST00000527950.5:c.-198-454A>G (CRYAB)	ENSP00000437149.1:n.-198-454A>G
ENST00000528628.5:c.-199+358A>G (CRYAB)	ENSP00000432182.1:n.-199+358A>G
ENST00000529647.5:c.-198-454A>G (CRYAB)	ENSP00000431754.1:n.-198-454A>G
ENST00000531198.5:c.-274-38A>G (CRYAB)	ENSP00000434247.1:n.-274-38A>G
ENST00000533475.5:c.-198-454A>G (CRYAB)	ENSP00000433560.1:n.-198-454A>G
ENST00000533879.1:c.-198-454A>G (CRYAB)	ENSP00000435931.1:n.-198-454A>G
ENST00000616970.4:c.-198-454A>G (CRYAB)	ENSP00000483554.1:n.-198-454A>G
NM_001289807.1:c.-198-454A>G (CRYAB)	NP_001276736.1:n.-198-454A>G
NM_001885.2:c.-198-454A>G (CRYAB)	NP_001876.1:n.-198-454A>G
XM_011542608.1:c.-199+358A>G (CRYAB)	XP_011540910.1:n.-199+358A>G
NM_001368245.1:c.-198-454A>G (CRYAB)	NP_001355174.1:n.-198-454A>G
NM_001885.3:c.-198-454A>G (CRYAB)	NP_001876.1:n.-198-454A>G