Canonical Allele Identifier: CA3750611

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171552G>A , CM000668.2:g.33171552G>A	GRCh38
NC_000006.11:g.33139329G>A , CM000668.1:g.33139329G>A	GRCh37
NC_000006.10:g.33247307G>A	NCBI36
NG_011589.1:g.25917C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3173C>T MANE Select	ENSP00000339915.2:p.Pro1058Leu
ENST00000341947.6:c.3173C>T	ENSP00000339915.2:p.Pro1058Leu
ENST00000361917.5:c.2852C>T	ENSP00000355123.1:p.Pro951Leu
ENST00000374708.8:c.2915C>T	ENSP00000363840.4:p.Pro972Leu
ENST00000477772.1:n.272+5457C>T
NM_080679.2:c.2852C>T	NP_542410.2:p.Pro951Leu
NM_080680.2:c.3173C>T	NP_542411.2:p.Pro1058Leu
NM_080681.2:c.2915C>T	NP_542412.2:p.Pro972Leu
XM_011514298.1:c.2327C>T	XP_011512600.1:p.Pro776Leu
XM_011514299.1:c.2459C>T	XP_011512601.1:p.Pro820Leu
XM_011514300.1:c.2279C>T	XP_011512602.1:p.Pro760Leu
XM_011514301.1:c.2216C>T	XP_011512603.1:p.Pro739Leu
XM_011514302.1:c.2060C>T	XP_011512604.1:p.Pro687Leu
XM_011514299.2:c.2459C>T	XP_011512601.1:p.Pro820Leu
XM_011514300.2:c.2279C>T	XP_011512602.1:p.Pro760Leu
XM_011514302.2:c.2060C>T	XP_011512604.1:p.Pro687Leu
XM_017010250.1:c.3173C>T	XP_016865739.1:p.Pro1058Leu
XM_017010251.2:c.1991C>T	XP_016865740.1:p.Pro664Leu
NM_080680.3:c.3173C>T MANE Select	NP_542411.2:p.Pro1058Leu
NM_080681.3:c.2915C>T	NP_542412.2:p.Pro972Leu
NM_080679.3:c.2852C>T	NP_542410.2:p.Pro951Leu