Canonical Allele Identifier: CA2229431650
Community Standard Title: NM_001013838.3(CARMIL2):c.871+1G=
Gene: CARMIL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67647603G= , CM000678.2:g.67647603G= GRCh38
NC_000016.9:g.67681506G= , CM000678.1:g.67681506G= GRCh37
NC_000016.8:g.66239007G= NCBI36
NG_054728.1:g.7685G=

Transcript Alleles

HGVS Amino-acid Change
NM_001013838.3:c.871+1G= MANE Select NP_001013860.1:n.871+1G=
ENST00000334583.11:c.871+1G= MANE Select ENSP00000334958.5:n.871+1G=
NM_001013838.1:c.871+1G= NP_001013860.1:n.871+1G=
NM_001013838.2:c.871+1G= NP_001013860.1:n.871+1G=
NM_001317026.1:c.871+1G= NP_001303955.1:n.871+1G=
NM_001317026.2:c.871+1G= NP_001303955.1:n.871+1G=
NM_001317026.3:c.871+1G= NP_001303955.1:n.871+1G=
ENST00000334583.10:c.871+1G= ENSP00000334958.5:n.871+1G=
ENST00000545661.5:c.871+1G= ENSP00000441481.1:n.871+1G=
ENST00000602563.1:c.*612G= ENSP00000473580.1:n.*612G=
ENST00000602742.1:n.156+1G=
ENST00000696175.1:c.886+1G= ENSP00000512465.1:n.886+1G=
ENST00000696176.1:c.886+1G= ENSP00000512466.1:n.886+1G=
XM_011522874.1:c.886+1G= XP_011521176.1:n.886+1G=
XM_011522875.2:c.886+1G= XP_011521177.2:n.886+1G=
XM_017022953.1:c.886+1G= XP_016878442.1:n.886+1G=
XR_001751843.1:n.1129+1G=