Canonical Allele Identifier: CA363617482

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2041546
• ClinVar RCV Id: RCV002903052
• dbSNP Id: rs1313578155
• gnomAD v2: 6-33132660-G-T
• gnomAD v3: 6-33164883-G-T
• gnomAD v4: 6-33164883-G-T
• MyVariant Identifiers: chr6:g.33132660G>T (hg19) ; chr6:g.33164883G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164883G>T , CM000668.2:g.33164883G>T	GRCh38
NC_000006.11:g.33132660G>T , CM000668.1:g.33132660G>T	GRCh37
NC_000006.10:g.33240638G>T	NCBI36
NG_011589.1:g.32586C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.638C>A
ENST00000341947.7:c.4832C>A MANE Select	ENSP00000339915.2:p.Thr1611Asn
ENST00000341947.6:c.4832C>A	ENSP00000339915.2:p.Thr1611Asn
ENST00000361917.5:c.4511C>A	ENSP00000355123.1:p.Thr1504Asn
ENST00000374708.8:c.4574C>A	ENSP00000363840.4:p.Thr1525Asn
ENST00000477772.1:n.622C>A
NM_080679.2:c.4511C>A	NP_542410.2:p.Thr1504Asn
NM_080680.2:c.4832C>A	NP_542411.2:p.Thr1611Asn
NM_080681.2:c.4574C>A	NP_542412.2:p.Thr1525Asn
XM_011514298.1:c.3986C>A	XP_011512600.1:p.Thr1329Asn
XM_011514299.1:c.4118C>A	XP_011512601.1:p.Thr1373Asn
XM_011514300.1:c.3938C>A	XP_011512602.1:p.Thr1313Asn
XM_011514301.1:c.3875C>A	XP_011512603.1:p.Thr1292Asn
XM_011514302.1:c.3719C>A	XP_011512604.1:p.Thr1240Asn
XM_011514299.2:c.4118C>A	XP_011512601.1:p.Thr1373Asn
XM_011514300.2:c.3938C>A	XP_011512602.1:p.Thr1313Asn
XM_011514302.2:c.3719C>A	XP_011512604.1:p.Thr1240Asn
XM_017010250.1:c.4832C>A	XP_016865739.1:p.Thr1611Asn
XM_017010251.2:c.3650C>A	XP_016865740.1:p.Thr1217Asn
NM_080680.3:c.4832C>A MANE Select	NP_542411.2:p.Thr1611Asn
NM_080681.3:c.4574C>A	NP_542412.2:p.Thr1525Asn
NM_080679.3:c.4511C>A	NP_542410.2:p.Thr1504Asn