Canonical Allele Identifier: CA1619892605
Community Standard Title: NM_080680.3(COL11A2):c.4322G= (p.Gly1441=)
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33166736C= , CM000668.2:g.33166736C= GRCh38
NC_000006.11:g.33134513C= , CM000668.1:g.33134513C= GRCh37
NC_000006.10:g.33242491C= NCBI36
NG_011589.1:g.30733G=

Transcript Alleles

HGVS Amino-acid Change
NM_080680.3:c.4322G= MANE Select NP_542411.2:p.Gly1441=
ENST00000341947.7:c.4322G= MANE Select ENSP00000339915.2:p.Gly1441=
NM_080679.2:c.4001G= NP_542410.2:p.Gly1334=
NM_080679.3:c.4001G= NP_542410.2:p.Gly1334=
NM_080680.2:c.4322G= NP_542411.2:p.Gly1441=
NM_080681.2:c.4064G= NP_542412.2:p.Gly1355=
NM_080681.3:c.4064G= NP_542412.2:p.Gly1355=
ENST00000341947.6:c.4322G= ENSP00000339915.2:p.Gly1441=
ENST00000361917.5:c.4001G= ENSP00000355123.1:p.Gly1334=
ENST00000374708.8:c.4064G= ENSP00000363840.4:p.Gly1355=
ENST00000477772.1:n.273-920G=
ENST00000683572.1:n.234+55G=
XM_011514298.1:c.3476G= XP_011512600.1:p.Gly1159=
XM_011514299.1:c.3608G= XP_011512601.1:p.Gly1203=
XM_011514299.2:c.3608G= XP_011512601.1:p.Gly1203=
XM_011514300.1:c.3428G= XP_011512602.1:p.Gly1143=
XM_011514300.2:c.3428G= XP_011512602.1:p.Gly1143=
XM_011514301.1:c.3365G= XP_011512603.1:p.Gly1122=
XM_011514302.1:c.3209G= XP_011512604.1:p.Gly1070=
XM_011514302.2:c.3209G= XP_011512604.1:p.Gly1070=
XM_017010250.1:c.4322G= XP_016865739.1:p.Gly1441=
XM_017010251.2:c.3140G= XP_016865740.1:p.Gly1047=