Canonical Allele Identifier: CA1619904458
Community Standard Title: NM_080680.3(COL11A2):c.109G= (p.Ala37=)
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33189443C= , CM000668.2:g.33189443C= GRCh38
NC_000006.11:g.33157220C= , CM000668.1:g.33157220C= GRCh37
NC_000006.10:g.33265198C= NCBI36
NG_011589.1:g.8026G=

Transcript Alleles

HGVS Amino-acid Change
NM_080680.3:c.109G= MANE Select NP_542411.2:p.Ala37=
ENST00000341947.7:c.109G= MANE Select ENSP00000339915.2:p.Ala37=
NM_001163771.1:c.109G= NP_001157243.1:p.Ala37=
NM_001163771.2:c.109G= NP_001157243.1:p.Ala37=
NM_080679.2:c.109G= NP_542410.2:p.Ala37=
NM_080679.3:c.109G= NP_542410.2:p.Ala37=
NM_080680.2:c.109G= NP_542411.2:p.Ala37=
NM_080681.2:c.109G= NP_542412.2:p.Ala37=
NM_080681.3:c.109G= NP_542412.2:p.Ala37=
ENST00000341947.6:c.109G= ENSP00000339915.2:p.Ala37=
ENST00000361917.5:c.109G= ENSP00000355123.1:p.Ala37=
ENST00000374708.8:c.109G= ENSP00000363840.4:p.Ala37=
ENST00000395194.1:c.109G= ENSP00000378620.1:p.Ala37=
ENST00000457788.5:c.109G= ENSP00000405520.1:p.Ala37=
XM_011514298.1:c.-738G= XP_011512600.1:n.-738G=
XM_017010250.1:c.109G= XP_016865739.1:p.Ala37=