Canonical Allele Identifier: CA1619898204
Community Standard Title: NM_080680.3(COL11A2):c.2492C= (p.Ser831=)
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33174048G= , CM000668.2:g.33174048G= GRCh38
NC_000006.11:g.33141825G= , CM000668.1:g.33141825G= GRCh37
NC_000006.10:g.33249803G= NCBI36
NG_011589.1:g.23421C=

Transcript Alleles

HGVS Amino-acid Change
NM_080680.3:c.2492C= MANE Select NP_542411.2:p.Ser831=
ENST00000341947.7:c.2492C= MANE Select ENSP00000339915.2:p.Ser831=
NM_080679.2:c.2171C= NP_542410.2:p.Ser724=
NM_080679.3:c.2171C= NP_542410.2:p.Ser724=
NM_080680.2:c.2492C= NP_542411.2:p.Ser831=
NM_080681.2:c.2234C= NP_542412.2:p.Ser745=
NM_080681.3:c.2234C= NP_542412.2:p.Ser745=
ENST00000341947.6:c.2492C= ENSP00000339915.2:p.Ser831=
ENST00000361917.5:c.2171C= ENSP00000355123.1:p.Ser724=
ENST00000361917.6:c.1065C=
ENST00000374708.8:c.2234C= ENSP00000363840.4:p.Ser745=
ENST00000477772.1:n.272+2961C=
XM_011514298.1:c.1646C= XP_011512600.1:p.Ser549=
XM_011514299.1:c.1778C= XP_011512601.1:p.Ser593=
XM_011514299.2:c.1778C= XP_011512601.1:p.Ser593=
XM_011514300.1:c.1598C= XP_011512602.1:p.Ser533=
XM_011514300.2:c.1598C= XP_011512602.1:p.Ser533=
XM_011514301.1:c.1535C= XP_011512603.1:p.Ser512=
XM_011514302.1:c.1379C= XP_011512604.1:p.Ser460=
XM_011514302.2:c.1379C= XP_011512604.1:p.Ser460=
XM_017010250.1:c.2492C= XP_016865739.1:p.Ser831=
XM_017010251.2:c.1310C= XP_016865740.1:p.Ser437=