Canonical Allele Identifier: CA8228329
Community Standard Title: NM_000101.4(CYBA):c.287+2T>C
Gene: CYBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88646753A>G , CM000678.2:g.88646753A>G GRCh38
NC_000016.9:g.88713161A>G , CM000678.1:g.88713161A>G GRCh37
NC_000016.8:g.87240662A>G NCBI36
NG_007291.1:g.9297T>C , LRG_52:g.9297T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000101.4:c.287+2T>C MANE Select NP_000092.2:n.287+2T>C
ENST00000261623.8:c.287+2T>C MANE Select ENSP00000261623.3:n.287+2T>C
NM_000101.3:c.287+2T>C NP_000092.2:n.287+2T>C
ENST00000261623.7:c.287+2T>C ENSP00000261623.3:n.287+2T>C
ENST00000562209.1:n.567+2T>C
ENST00000563526.5:n.264T>C
ENST00000565588.5:c.71+2T>C
ENST00000565588.6:c.287+2T>C ENSP00000455537.2:n.287+2T>C
ENST00000566229.1:c.276+2T>C ENSP00000457060.1:n.276+2T>C
ENST00000566534.5:n.311T>C
ENST00000567174.5:c.287+2T>C ENSP00000454951.1:n.287+2T>C
ENST00000568278.1:c.287+2T>C ENSP00000455506.1:n.287+2T>C
ENST00000569359.5:c.287+2T>C ENSP00000456079.1:n.287+2T>C
ENST00000696156.1:c.203+348T>C ENSP00000512446.1:n.203+348T>C
ENST00000696157.1:c.287+2T>C ENSP00000512447.1:n.287+2T>C
ENST00000696158.1:c.287+2T>C ENSP00000512448.1:n.287+2T>C
ENST00000696159.1:c.287+2T>C ENSP00000512449.1:n.287+2T>C
ENST00000696160.1:c.287+2T>C ENSP00000512450.1:n.287+2T>C
ENST00000696161.1:c.417+2T>C ENSP00000512451.1:n.417+2T>C
ENST00000696162.1:c.287+2T>C ENSP00000512452.1:n.287+2T>C
ENST00000696163.1:c.236+2T>C ENSP00000512453.1:n.236+2T>C
XM_011522905.1:c.287+2T>C XP_011521207.1:n.287+2T>C
XM_011522905.3:c.287+2T>C XP_011521207.1:n.287+2T>C