Canonical Allele Identifier: CA410988384

Gene: CRYBB2

Linked Data

• MyVariant Identifiers: chr22:g.25627690T>C (hg19) ; chr22:g.25231723T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25231723T>C , CM000684.2:g.25231723T>C	GRCh38
NC_000022.10:g.25627690T>C , CM000684.1:g.25627690T>C	GRCh37
NC_000022.9:g.23957690T>C	NCBI36
NG_009827.1:g.17079T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.569T>C MANE Select	ENSP00000381273.2:p.Ile190Thr
ENST00000651629.1:c.569T>C	ENSP00000498905.1:p.Ile190Thr
ENST00000398215.2:c.569T>C	ENSP00000381273.2:p.Ile190Thr
NM_000496.2:c.569T>C	NP_000487.1:p.Ile190Thr
XM_006724141.2:c.569T>C	XP_006724204.1:p.Ile190Thr
XM_011529900.1:c.569T>C	XP_011528202.1:p.Ile190Thr
XM_011529901.1:c.569T>C	XP_011528203.1:p.Ile190Thr
XM_006724141.3:c.569T>C	XP_006724204.1:p.Ile190Thr
XM_011529900.2:c.569T>C	XP_011528202.1:p.Ile190Thr
NM_000496.3:c.569T>C MANE Select	NP_000487.1:p.Ile190Thr