Canonical Allele Identifier: CA410988436
Gene: CRYBB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25231745A>T , CM000684.2:g.25231745A>T GRCh38
NC_000022.10:g.25627712A>T , CM000684.1:g.25627712A>T GRCh37
NC_000022.9:g.23957712A>T NCBI36
NG_009827.1:g.17101A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000398215.3:c.591A>T MANE Select ENSP00000381273.2:p.Gln197His
ENST00000651629.1:c.591A>T ENSP00000498905.1:p.Gln197His
ENST00000398215.2:c.591A>T ENSP00000381273.2:p.Gln197His
NM_000496.2:c.591A>T NP_000487.1:p.Gln197His
XM_006724141.2:c.591A>T XP_006724204.1:p.Gln197His
XM_011529900.1:c.591A>T XP_011528202.1:p.Gln197His
XM_011529901.1:c.591A>T XP_011528203.1:p.Gln197His
XM_006724141.3:c.591A>T XP_006724204.1:p.Gln197His
XM_011529900.2:c.591A>T XP_011528202.1:p.Gln197His
NM_000496.3:c.591A>T MANE Select NP_000487.1:p.Gln197His