Canonical Allele Identifier: CA3750388

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1596838
• ClinVar RCV Id: RCV002117479
• dbSNP Id: rs758540775
• ExAC: 6:33137244 C / T
• gnomAD v2: 6-33137244-C-T
• gnomAD v4: 6-33169467-C-T
• COSMIC: COSM3625616
• MyVariant Identifiers: chr6:g.33137244C>T (hg19) ; chr6:g.33169467C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169467C>T , CM000668.2:g.33169467C>T	GRCh38
NC_000006.11:g.33137244C>T , CM000668.1:g.33137244C>T	GRCh37
NC_000006.10:g.33245222C>T	NCBI36
NG_011589.1:g.28002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3714G>A MANE Select	ENSP00000339915.2:p.Glu1238=
ENST00000341947.6:c.3714G>A	ENSP00000339915.2:p.Glu1238=
ENST00000361917.5:c.3393G>A	ENSP00000355123.1:p.Glu1131=
ENST00000374708.8:c.3456G>A	ENSP00000363840.4:p.Glu1152=
ENST00000477772.1:n.273-3651G>A
NM_080679.2:c.3393G>A	NP_542410.2:p.Glu1131=
NM_080680.2:c.3714G>A	NP_542411.2:p.Glu1238=
NM_080681.2:c.3456G>A	NP_542412.2:p.Glu1152=
XM_011514298.1:c.2868G>A	XP_011512600.1:p.Glu956=
XM_011514299.1:c.3000G>A	XP_011512601.1:p.Glu1000=
XM_011514300.1:c.2820G>A	XP_011512602.1:p.Glu940=
XM_011514301.1:c.2757G>A	XP_011512603.1:p.Glu919=
XM_011514302.1:c.2601G>A	XP_011512604.1:p.Glu867=
XM_011514299.2:c.3000G>A	XP_011512601.1:p.Glu1000=
XM_011514300.2:c.2820G>A	XP_011512602.1:p.Glu940=
XM_011514302.2:c.2601G>A	XP_011512604.1:p.Glu867=
XM_017010250.1:c.3714G>A	XP_016865739.1:p.Glu1238=
XM_017010251.2:c.2532G>A	XP_016865740.1:p.Glu844=
NM_080680.3:c.3714G>A MANE Select	NP_542411.2:p.Glu1238=
NM_080681.3:c.3456G>A	NP_542412.2:p.Glu1152=
NM_080679.3:c.3393G>A	NP_542410.2:p.Glu1131=