Canonical Allele Identifier: CA138618

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33176466T>A , CM000668.2:g.33176466T>A	GRCh38
NC_000006.11:g.33144243T>A , CM000668.1:g.33144243T>A	GRCh37
NC_000006.10:g.33252221T>A	NCBI36
NG_011589.1:g.21003A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.709A>T
ENST00000341947.7:c.2136A>T MANE Select	ENSP00000339915.2:p.Gly712=
ENST00000341947.6:c.2136A>T	ENSP00000339915.2:p.Gly712=
ENST00000361917.5:c.1815A>T	ENSP00000355123.1:p.Gly605=
ENST00000374708.8:c.1878A>T	ENSP00000363840.4:p.Gly626=
ENST00000477772.1:n.272+543A>T
NM_080679.2:c.1815A>T	NP_542410.2:p.Gly605=
NM_080680.2:c.2136A>T	NP_542411.2:p.Gly712=
NM_080681.2:c.1878A>T	NP_542412.2:p.Gly626=
XM_011514298.1:c.1290A>T	XP_011512600.1:p.Gly430=
XM_011514299.1:c.1422A>T	XP_011512601.1:p.Gly474=
XM_011514300.1:c.1242A>T	XP_011512602.1:p.Gly414=
XM_011514301.1:c.1179A>T	XP_011512603.1:p.Gly393=
XM_011514302.1:c.1023A>T	XP_011512604.1:p.Gly341=
XM_011514299.2:c.1422A>T	XP_011512601.1:p.Gly474=
XM_011514300.2:c.1242A>T	XP_011512602.1:p.Gly414=
XM_011514302.2:c.1023A>T	XP_011512604.1:p.Gly341=
XM_017010250.1:c.2136A>T	XP_016865739.1:p.Gly712=
XM_017010251.2:c.954A>T	XP_016865740.1:p.Gly318=
NM_080680.3:c.2136A>T MANE Select	NP_542411.2:p.Gly712=
NM_080681.3:c.1878A>T	NP_542412.2:p.Gly626=
NM_080679.3:c.1815A>T	NP_542410.2:p.Gly605=