Canonical Allele Identifier: CA449881014

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33173508T>A , CM000668.2:g.33173508T>A	GRCh38
NC_000006.11:g.33141285T>A , CM000668.1:g.33141285T>A	GRCh37
NC_000006.10:g.33249263T>A	NCBI36
NG_011589.1:g.23961A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.2676A>T MANE Select	NP_542411.2:p.Gly892=
ENST00000341947.7:c.2676A>T MANE Select	ENSP00000339915.2:p.Gly892=
NM_080679.2:c.2355A>T	NP_542410.2:p.Gly785=
NM_080679.3:c.2355A>T	NP_542410.2:p.Gly785=
NM_080680.2:c.2676A>T	NP_542411.2:p.Gly892=
NM_080681.2:c.2418A>T	NP_542412.2:p.Gly806=
NM_080681.3:c.2418A>T	NP_542412.2:p.Gly806=
ENST00000341947.6:c.2676A>T	ENSP00000339915.2:p.Gly892=
ENST00000361917.5:c.2355A>T	ENSP00000355123.1:p.Gly785=
ENST00000361917.6:c.1249A>T
ENST00000374708.8:c.2418A>T	ENSP00000363840.4:p.Gly806=
ENST00000477772.1:n.272+3501A>T
XM_011514298.1:c.1830A>T	XP_011512600.1:p.Gly610=
XM_011514299.1:c.1962A>T	XP_011512601.1:p.Gly654=
XM_011514299.2:c.1962A>T	XP_011512601.1:p.Gly654=
XM_011514300.1:c.1782A>T	XP_011512602.1:p.Gly594=
XM_011514300.2:c.1782A>T	XP_011512602.1:p.Gly594=
XM_011514301.1:c.1719A>T	XP_011512603.1:p.Gly573=
XM_011514302.1:c.1563A>T	XP_011512604.1:p.Gly521=
XM_011514302.2:c.1563A>T	XP_011512604.1:p.Gly521=
XM_017010250.1:c.2676A>T	XP_016865739.1:p.Gly892=
XM_017010251.2:c.1494A>T	XP_016865740.1:p.Gly498=