Canonical Allele Identifier: CA1619896019
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33169456G= , CM000668.2:g.33169456G= GRCh38
NC_000006.11:g.33137233G= , CM000668.1:g.33137233G= GRCh37
NC_000006.10:g.33245211G= NCBI36
NG_011589.1:g.28013C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000341947.7:c.3725C= MANE Select ENSP00000339915.2:p.Ser1242=
ENST00000341947.6:c.3725C= ENSP00000339915.2:p.Ser1242=
ENST00000361917.5:c.3404C= ENSP00000355123.1:p.Ser1135=
ENST00000374708.8:c.3467C= ENSP00000363840.4:p.Ser1156=
ENST00000477772.1:n.273-3640C=
NM_080679.2:c.3404C= NP_542410.2:p.Ser1135=
NM_080680.2:c.3725C= NP_542411.2:p.Ser1242=
NM_080681.2:c.3467C= NP_542412.2:p.Ser1156=
XM_011514298.1:c.2879C= XP_011512600.1:p.Ser960=
XM_011514299.1:c.3011C= XP_011512601.1:p.Ser1004=
XM_011514300.1:c.2831C= XP_011512602.1:p.Ser944=
XM_011514301.1:c.2768C= XP_011512603.1:p.Ser923=
XM_011514302.1:c.2612C= XP_011512604.1:p.Ser871=
XM_011514299.2:c.3011C= XP_011512601.1:p.Ser1004=
XM_011514300.2:c.2831C= XP_011512602.1:p.Ser944=
XM_011514302.2:c.2612C= XP_011512604.1:p.Ser871=
XM_017010250.1:c.3725C= XP_016865739.1:p.Ser1242=
XM_017010251.2:c.2543C= XP_016865740.1:p.Ser848=
NM_080680.3:c.3725C= MANE Select NP_542411.2:p.Ser1242=
NM_080681.3:c.3467C= NP_542412.2:p.Ser1156=
NM_080679.3:c.3404C= NP_542410.2:p.Ser1135=