Canonical Allele Identifier: CA1619890228
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164749G= , CM000668.2:g.33164749G= GRCh38
NC_000006.11:g.33132526G= , CM000668.1:g.33132526G= GRCh37
NC_000006.10:g.33240504G= NCBI36
NG_011589.1:g.32720C=

Transcript Alleles

HGVS Amino-acid change
ENST00000683572.1:n.669+103C=
ENST00000341947.7:c.4863+103C= MANE Select ENSP00000339915.2:n.4863+103C=
ENST00000341947.6:c.4863+103C= ENSP00000339915.2:n.4863+103C=
ENST00000361917.5:c.4542+103C= ENSP00000355123.1:n.4542+103C=
ENST00000374708.8:c.4605+103C= ENSP00000363840.4:n.4605+103C=
ENST00000477772.1:n.653+103C=
NM_080679.2:c.4542+103C= NP_542410.2:n.4542+103C=
NM_080680.2:c.4863+103C= NP_542411.2:n.4863+103C=
NM_080681.2:c.4605+103C= NP_542412.2:n.4605+103C=
XM_011514298.1:c.4017+103C= XP_011512600.1:n.4017+103C=
XM_011514299.1:c.4149+103C= XP_011512601.1:n.4149+103C=
XM_011514300.1:c.3969+103C= XP_011512602.1:n.3969+103C=
XM_011514301.1:c.3906+103C= XP_011512603.1:n.3906+103C=
XM_011514302.1:c.3750+103C= XP_011512604.1:n.3750+103C=
XM_011514299.2:c.4149+103C= XP_011512601.1:n.4149+103C=
XM_011514300.2:c.3969+103C= XP_011512602.1:n.3969+103C=
XM_011514302.2:c.3750+103C= XP_011512604.1:n.3750+103C=
XM_017010250.1:c.4863+103C= XP_016865739.1:n.4863+103C=
XM_017010251.2:c.3681+103C= XP_016865740.1:n.3681+103C=
NM_080680.3:c.4863+103C= MANE Select NP_542411.2:n.4863+103C=
NM_080681.3:c.4605+103C= NP_542412.2:n.4605+103C=
NM_080679.3:c.4542+103C= NP_542410.2:n.4542+103C=