Canonical Allele Identifier: CA127091
Gene: COL11A2 HGNC NCBI

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
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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
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