Canonical Allele Identifier: CA10158072

Gene: CRYBB2

Linked Data

• dbSNP Id: rs759143656
• ExAC: 22:25627725 C / T
• gnomAD v2: 22-25627725-C-T
• gnomAD v3: 22-25231758-C-T
• gnomAD v4: 22-25231758-C-T
• MyVariant Identifiers: chr22:g.25627725C>T (hg19) ; chr22:g.25231758C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25231758C>T , CM000684.2:g.25231758C>T	GRCh38
NC_000022.10:g.25627725C>T , CM000684.1:g.25627725C>T	GRCh37
NC_000022.9:g.23957725C>T	NCBI36
NG_009827.1:g.17114C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.604C>T MANE Select	ENSP00000381273.2:p.His202Tyr
ENST00000651629.1:c.604C>T	ENSP00000498905.1:p.His202Tyr
ENST00000398215.2:c.604C>T	ENSP00000381273.2:p.His202Tyr
NM_000496.2:c.604C>T	NP_000487.1:p.His202Tyr
XM_006724141.2:c.604C>T	XP_006724204.1:p.His202Tyr
XM_011529900.1:c.604C>T	XP_011528202.1:p.His202Tyr
XM_011529901.1:c.604C>T	XP_011528203.1:p.His202Tyr
XM_006724141.3:c.604C>T	XP_006724204.1:p.His202Tyr
XM_011529900.2:c.604C>T	XP_011528202.1:p.His202Tyr
NM_000496.3:c.604C>T MANE Select	NP_000487.1:p.His202Tyr