Canonical Allele Identifier: CA3750872

Gene: COL11A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174048G>A , CM000668.2:g.33174048G>A	GRCh38
NC_000006.11:g.33141825G>A , CM000668.1:g.33141825G>A	GRCh37
NC_000006.10:g.33249803G>A	NCBI36
NG_011589.1:g.23421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.1065C>T
ENST00000341947.7:c.2492C>T MANE Select	ENSP00000339915.2:p.Ser831Leu
ENST00000341947.6:c.2492C>T	ENSP00000339915.2:p.Ser831Leu
ENST00000361917.5:c.2171C>T	ENSP00000355123.1:p.Ser724Leu
ENST00000374708.8:c.2234C>T	ENSP00000363840.4:p.Ser745Leu
ENST00000477772.1:n.272+2961C>T
NM_080679.2:c.2171C>T	NP_542410.2:p.Ser724Leu
NM_080680.2:c.2492C>T	NP_542411.2:p.Ser831Leu
NM_080681.2:c.2234C>T	NP_542412.2:p.Ser745Leu
XM_011514298.1:c.1646C>T	XP_011512600.1:p.Ser549Leu
XM_011514299.1:c.1778C>T	XP_011512601.1:p.Ser593Leu
XM_011514300.1:c.1598C>T	XP_011512602.1:p.Ser533Leu
XM_011514301.1:c.1535C>T	XP_011512603.1:p.Ser512Leu
XM_011514302.1:c.1379C>T	XP_011512604.1:p.Ser460Leu
XM_011514299.2:c.1778C>T	XP_011512601.1:p.Ser593Leu
XM_011514300.2:c.1598C>T	XP_011512602.1:p.Ser533Leu
XM_011514302.2:c.1379C>T	XP_011512604.1:p.Ser460Leu
XM_017010250.1:c.2492C>T	XP_016865739.1:p.Ser831Leu
XM_017010251.2:c.1310C>T	XP_016865740.1:p.Ser437Leu
NM_080680.3:c.2492C>T MANE Select	NP_542411.2:p.Ser831Leu
NM_080681.3:c.2234C>T	NP_542412.2:p.Ser745Leu
NM_080679.3:c.2171C>T	NP_542410.2:p.Ser724Leu