Canonical Allele Identifier: CA247358

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 198609
• ClinVar RCV Id: RCV000223442 ; RCV000678342 ; RCV000764647 ; RCV000724260 ; RCV001253705 ; RCV002277425
• dbSNP Id: rs139116571
• gnomAD v2: 6-33152819-C-T
• gnomAD v3: 6-33185042-C-T
• gnomAD v4: 6-33185042-C-T
• MyVariant Identifiers: chr6:g.33152819C>T (hg19) ; chr6:g.33185042C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33185042C>T , CM000668.2:g.33185042C>T	GRCh38
NC_000006.11:g.33152819C>T , CM000668.1:g.33152819C>T	GRCh37
NC_000006.10:g.33260797C>T	NCBI36
NG_011589.1:g.12427G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682718.1:n.706G>A
ENST00000341947.7:c.889G>A MANE Select	ENSP00000339915.2:p.Gly297Ser
ENST00000341947.6:c.889G>A	ENSP00000339915.2:p.Gly297Ser
ENST00000361917.5:c.798+1585G>A	ENSP00000355123.1:n.798+1585G>A
ENST00000374708.8:c.811G>A	ENSP00000363840.4:p.Gly271Ser
ENST00000457788.5:c.889G>A	ENSP00000405520.1:p.Gly297Ser
NM_080679.2:c.798+1585G>A	NP_542410.2:n.798+1585G>A
NM_080680.2:c.889G>A	NP_542411.2:p.Gly297Ser
NM_080681.2:c.811G>A	NP_542412.2:p.Gly271Ser
XM_011514298.1:c.43G>A	XP_011512600.1:p.Gly15Ser
XM_011514299.1:c.175G>A	XP_011512601.1:p.Gly59Ser
XM_011514300.1:c.175G>A	XP_011512602.1:p.Gly59Ser
XM_011514301.1:c.162+242G>A	XP_011512603.1:n.162+242G>A
XM_011514299.2:c.175G>A	XP_011512601.1:p.Gly59Ser
XM_011514300.2:c.175G>A	XP_011512602.1:p.Gly59Ser
XM_017010250.1:c.889G>A	XP_016865739.1:p.Gly297Ser
NM_080680.3:c.889G>A MANE Select	NP_542411.2:p.Gly297Ser
NM_080681.3:c.811G>A	NP_542412.2:p.Gly271Ser
NM_080679.3:c.798+1585G>A	NP_542410.2:n.798+1585G>A