Canonical Allele Identifier: CA127091

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 17123
• ClinVar RCV Id: RCV000018660
• dbSNP Id: rs121912946
• MyVariant Identifiers: chr6:g.33134513C>T (hg19) ; chr6:g.33166736C>T (hg38)
• PubMed: PMID:9805126 ; PMID:14234962

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33166736C>T , CM000668.2:g.33166736C>T	GRCh38
NC_000006.11:g.33134513C>T , CM000668.1:g.33134513C>T	GRCh37
NC_000006.10:g.33242491C>T	NCBI36
NG_011589.1:g.30733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.234+55G>A
ENST00000341947.7:c.4322G>A MANE Select	ENSP00000339915.2:p.Gly1441Glu
ENST00000341947.6:c.4322G>A	ENSP00000339915.2:p.Gly1441Glu
ENST00000361917.5:c.4001G>A	ENSP00000355123.1:p.Gly1334Glu
ENST00000374708.8:c.4064G>A	ENSP00000363840.4:p.Gly1355Glu
ENST00000477772.1:n.273-920G>A
NM_080679.2:c.4001G>A	NP_542410.2:p.Gly1334Glu
NM_080680.2:c.4322G>A	NP_542411.2:p.Gly1441Glu
NM_080681.2:c.4064G>A	NP_542412.2:p.Gly1355Glu
XM_011514298.1:c.3476G>A	XP_011512600.1:p.Gly1159Glu
XM_011514299.1:c.3608G>A	XP_011512601.1:p.Gly1203Glu
XM_011514300.1:c.3428G>A	XP_011512602.1:p.Gly1143Glu
XM_011514301.1:c.3365G>A	XP_011512603.1:p.Gly1122Glu
XM_011514302.1:c.3209G>A	XP_011512604.1:p.Gly1070Glu
XM_011514299.2:c.3608G>A	XP_011512601.1:p.Gly1203Glu
XM_011514300.2:c.3428G>A	XP_011512602.1:p.Gly1143Glu
XM_011514302.2:c.3209G>A	XP_011512604.1:p.Gly1070Glu
XM_017010250.1:c.4322G>A	XP_016865739.1:p.Gly1441Glu
XM_017010251.2:c.3140G>A	XP_016865740.1:p.Gly1047Glu
NM_080680.3:c.4322G>A MANE Select	NP_542411.2:p.Gly1441Glu
NM_080681.3:c.4064G>A	NP_542412.2:p.Gly1355Glu
NM_080679.3:c.4001G>A	NP_542410.2:p.Gly1334Glu