Canonical Allele Identifier: CA3750850

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33173920G>A , CM000668.2:g.33173920G>A	GRCh38
NC_000006.11:g.33141697G>A , CM000668.1:g.33141697G>A	GRCh37
NC_000006.10:g.33249675G>A	NCBI36
NG_011589.1:g.23549C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_080680.3:c.2536C>T MANE Select	NP_542411.2:p.Arg846Trp
ENST00000341947.7:c.2536C>T MANE Select	ENSP00000339915.2:p.Arg846Trp
NM_080679.2:c.2215C>T	NP_542410.2:p.Arg739Trp
NM_080679.3:c.2215C>T	NP_542410.2:p.Arg739Trp
NM_080680.2:c.2536C>T	NP_542411.2:p.Arg846Trp
NM_080681.2:c.2278C>T	NP_542412.2:p.Arg760Trp
NM_080681.3:c.2278C>T	NP_542412.2:p.Arg760Trp
ENST00000341947.6:c.2536C>T	ENSP00000339915.2:p.Arg846Trp
ENST00000361917.5:c.2215C>T	ENSP00000355123.1:p.Arg739Trp
ENST00000361917.6:c.1109C>T
ENST00000374708.8:c.2278C>T	ENSP00000363840.4:p.Arg760Trp
ENST00000477772.1:n.272+3089C>T
XM_011514298.1:c.1690C>T	XP_011512600.1:p.Arg564Trp
XM_011514299.1:c.1822C>T	XP_011512601.1:p.Arg608Trp
XM_011514299.2:c.1822C>T	XP_011512601.1:p.Arg608Trp
XM_011514300.1:c.1642C>T	XP_011512602.1:p.Arg548Trp
XM_011514300.2:c.1642C>T	XP_011512602.1:p.Arg548Trp
XM_011514301.1:c.1579C>T	XP_011512603.1:p.Arg527Trp
XM_011514302.1:c.1423C>T	XP_011512604.1:p.Arg475Trp
XM_011514302.2:c.1423C>T	XP_011512604.1:p.Arg475Trp
XM_017010250.1:c.2536C>T	XP_016865739.1:p.Arg846Trp
XM_017010251.2:c.1354C>T	XP_016865740.1:p.Arg452Trp