Canonical Allele Identifier: CA2577670063

Gene: CRYBB2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.25231769del , CM000684.2:g.25231769del	GRCh38
NC_000022.10:g.25627736del , CM000684.1:g.25627736del	GRCh37
NC_000022.9:g.23957736del	NCBI36
NG_009827.1:g.17125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398215.3:c.615del MANE Select	ENSP00000381273.2:p.Ter206SerextTer27
ENST00000651629.1:c.615del	ENSP00000498905.1:p.Ter206SerextTer27
ENST00000398215.2:c.615del	ENSP00000381273.2:p.Ter206SerextTer27
NM_000496.2:c.615del	NP_000487.1:p.Ter206SerextTer27
XM_006724141.2:c.615del	XP_006724204.1:p.Ter206SerextTer27
XM_011529900.1:c.615del	XP_011528202.1:p.Ter206SerextTer27
XM_011529901.1:c.615del	XP_011528203.1:p.Ter206SerextTer27
XM_006724141.3:c.615del	XP_006724204.1:p.Ter206SerextTer27
XM_011529900.2:c.615del	XP_011528202.1:p.Ter206SerextTer27
NM_000496.3:c.615del MANE Select	NP_000487.1:p.Ter206SerextTer27