Canonical Allele Identifier: CA363628053

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33137253T>G (hg19) ; chr6:g.33169476T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169476T>G , CM000668.2:g.33169476T>G	GRCh38
NC_000006.11:g.33137253T>G , CM000668.1:g.33137253T>G	GRCh37
NC_000006.10:g.33245231T>G	NCBI36
NG_011589.1:g.27993A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3705A>C MANE Select	ENSP00000339915.2:p.Glu1235Asp
ENST00000341947.6:c.3705A>C	ENSP00000339915.2:p.Glu1235Asp
ENST00000361917.5:c.3384A>C	ENSP00000355123.1:p.Glu1128Asp
ENST00000374708.8:c.3447A>C	ENSP00000363840.4:p.Glu1149Asp
ENST00000477772.1:n.273-3660A>C
NM_080679.2:c.3384A>C	NP_542410.2:p.Glu1128Asp
NM_080680.2:c.3705A>C	NP_542411.2:p.Glu1235Asp
NM_080681.2:c.3447A>C	NP_542412.2:p.Glu1149Asp
XM_011514298.1:c.2859A>C	XP_011512600.1:p.Glu953Asp
XM_011514299.1:c.2991A>C	XP_011512601.1:p.Glu997Asp
XM_011514300.1:c.2811A>C	XP_011512602.1:p.Glu937Asp
XM_011514301.1:c.2748A>C	XP_011512603.1:p.Glu916Asp
XM_011514302.1:c.2592A>C	XP_011512604.1:p.Glu864Asp
XM_011514299.2:c.2991A>C	XP_011512601.1:p.Glu997Asp
XM_011514300.2:c.2811A>C	XP_011512602.1:p.Glu937Asp
XM_011514302.2:c.2592A>C	XP_011512604.1:p.Glu864Asp
XM_017010250.1:c.3705A>C	XP_016865739.1:p.Glu1235Asp
XM_017010251.2:c.2523A>C	XP_016865740.1:p.Glu841Asp
NM_080680.3:c.3705A>C MANE Select	NP_542411.2:p.Glu1235Asp
NM_080681.3:c.3447A>C	NP_542412.2:p.Glu1149Asp
NM_080679.3:c.3384A>C	NP_542410.2:p.Glu1128Asp