Canonical Allele Identifier: CA273807274
Community Standard Title: NM_006383.4(CIB2):c.199-251C>T
Gene: CIB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78109633G>A , CM000677.2:g.78109633G>A GRCh38
NC_000015.9:g.78401975G>A , CM000677.1:g.78401975G>A GRCh37
NC_000015.8:g.76189030G>A NCBI36
NG_033006.1:g.26903C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006383.4:c.199-251C>T MANE Select NP_006374.1:n.199-251C>T
ENST00000258930.8:c.199-251C>T MANE Select ENSP00000258930.3:n.199-251C>T
NM_001271888.1:c.70-251C>T NP_001258817.1:n.70-251C>T
NM_001271888.2:c.70-251C>T NP_001258817.1:n.70-251C>T
NM_001271889.1:c.52-251C>T NP_001258818.1:n.52-251C>T
NM_001271889.2:c.52-251C>T NP_001258818.1:n.52-251C>T
NM_001301224.1:c.87-124C>T NP_001288153.1:n.87-124C>T
NM_001301224.2:c.87-124C>T NP_001288153.1:n.87-124C>T
NM_006383.3:c.199-251C>T NP_006374.1:n.199-251C>T
NR_125435.1:n.407-251C>T
NR_125435.2:n.407-251C>T
ENST00000258930.7:c.199-251C>T ENSP00000258930.3:n.199-251C>T
ENST00000539011.5:c.70-251C>T ENSP00000442459.1:n.70-251C>T
ENST00000557818.1:c.181-251C>T ENSP00000453654.1:n.181-251C>T
ENST00000557846.5:c.52-251C>T ENSP00000453488.1:n.52-251C>T
ENST00000557917.5:c.87-251C>T ENSP00000453963.1:n.87-251C>T
ENST00000559054.1:c.70-251C>T ENSP00000453377.1:n.70-251C>T
ENST00000559645.1:c.87-124C>T ENSP00000452980.1:n.87-124C>T
ENST00000560618.5:c.70-251C>T ENSP00000452752.1:n.70-251C>T
ENST00000561190.5:c.199-251C>T ENSP00000453256.1:n.199-251C>T
ENST00000643268.1:c.88-124C>T ENSP00000494155.1:n.88-124C>T
XM_005254126.2:c.199-251C>T XP_005254183.1:n.199-251C>T
XM_005254126.3:c.199-251C>T XP_005254183.1:n.199-251C>T
XM_006720374.2:c.70-251C>T XP_006720437.1:n.70-251C>T
XM_011521161.1:c.70-251C>T XP_011519463.1:n.70-251C>T
XM_011521161.2:c.70-251C>T XP_011519463.1:n.70-251C>T
XR_001751051.1:n.960-124C>T