Canonical Allele Identifier: CA3751180

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 226532
• ClinVar RCV Id: RCV000219221 ; RCV001154508 ; RCV001154510 ; RCV001486639 ; RCV001154509
• dbSNP Id: rs3129202
• ExAC: 6:33145972 C / T
• gnomAD v2: 6-33145972-C-T
• gnomAD v3: 6-33178195-C-T
• gnomAD v4: 6-33178195-C-T
• MyVariant Identifiers: chr6:g.33145972C>T (hg19) ; chr6:g.33178195C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33178195C>T , CM000668.2:g.33178195C>T	GRCh38
NC_000006.11:g.33145972C>T , CM000668.1:g.33145972C>T	GRCh37
NC_000006.10:g.33253950C>T	NCBI36
NG_011589.1:g.19274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.445+113G>A
ENST00000341947.7:c.1819-10G>A MANE Select	ENSP00000339915.2:n.1819-10G>A
ENST00000341947.6:c.1819-10G>A	ENSP00000339915.2:n.1819-10G>A
ENST00000361917.5:c.1498-10G>A	ENSP00000355123.1:n.1498-10G>A
ENST00000374708.8:c.1561-10G>A	ENSP00000363840.4:n.1561-10G>A
ENST00000457788.5:c.1819-10G>A	ENSP00000405520.1:n.1819-10G>A
NM_080679.2:c.1498-10G>A	NP_542410.2:n.1498-10G>A
NM_080680.2:c.1819-10G>A	NP_542411.2:n.1819-10G>A
NM_080681.2:c.1561-10G>A	NP_542412.2:n.1561-10G>A
XM_011514298.1:c.973-10G>A	XP_011512600.1:n.973-10G>A
XM_011514299.1:c.1105-10G>A	XP_011512601.1:n.1105-10G>A
XM_011514300.1:c.925-10G>A	XP_011512602.1:n.925-10G>A
XM_011514301.1:c.862-10G>A	XP_011512603.1:n.862-10G>A
XM_011514302.1:c.706-10G>A	XP_011512604.1:n.706-10G>A
XM_011514299.2:c.1105-10G>A	XP_011512601.1:n.1105-10G>A
XM_011514300.2:c.925-10G>A	XP_011512602.1:n.925-10G>A
XM_011514302.2:c.706-10G>A	XP_011512604.1:n.706-10G>A
XM_017010250.1:c.1819-10G>A	XP_016865739.1:n.1819-10G>A
XM_017010251.2:c.637-10G>A	XP_016865740.1:n.637-10G>A
NM_080680.3:c.1819-10G>A MANE Select	NP_542411.2:n.1819-10G>A
NM_080681.3:c.1561-10G>A	NP_542412.2:n.1561-10G>A
NM_080679.3:c.1498-10G>A	NP_542410.2:n.1498-10G>A