Canonical Allele Identifier: CA363616115

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1371091
• ClinVar RCV Id: RCV001878820
• dbSNP Id: rs1377653646
• gnomAD v3: 6-33164353-C-T
• gnomAD v4: 6-33164353-C-T
• MyVariant Identifiers: chr6:g.33132130C>T (hg19) ; chr6:g.33164353C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164353C>T , CM000668.2:g.33164353C>T	GRCh38
NC_000006.11:g.33132130C>T , CM000668.1:g.33132130C>T	GRCh37
NC_000006.10:g.33240108C>T	NCBI36
NG_011589.1:g.33116G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.790G>A
ENST00000341947.7:c.4984G>A MANE Select	ENSP00000339915.2:p.Gly1662Ser
ENST00000341947.6:c.4984G>A	ENSP00000339915.2:p.Gly1662Ser
ENST00000361917.5:c.4663G>A	ENSP00000355123.1:p.Gly1555Ser
ENST00000374708.8:c.4726G>A	ENSP00000363840.4:p.Gly1576Ser
ENST00000477772.1:n.774G>A
NM_080679.2:c.4663G>A	NP_542410.2:p.Gly1555Ser
NM_080680.2:c.4984G>A	NP_542411.2:p.Gly1662Ser
NM_080681.2:c.4726G>A	NP_542412.2:p.Gly1576Ser
XM_011514298.1:c.4138G>A	XP_011512600.1:p.Gly1380Ser
XM_011514299.1:c.4270G>A	XP_011512601.1:p.Gly1424Ser
XM_011514300.1:c.4090G>A	XP_011512602.1:p.Gly1364Ser
XM_011514301.1:c.4027G>A	XP_011512603.1:p.Gly1343Ser
XM_011514302.1:c.3871G>A	XP_011512604.1:p.Gly1291Ser
XM_011514299.2:c.4270G>A	XP_011512601.1:p.Gly1424Ser
XM_011514300.2:c.4090G>A	XP_011512602.1:p.Gly1364Ser
XM_011514302.2:c.3871G>A	XP_011512604.1:p.Gly1291Ser
XM_017010250.1:c.4984G>A	XP_016865739.1:p.Gly1662Ser
XM_017010251.2:c.3802G>A	XP_016865740.1:p.Gly1268Ser
NM_080680.3:c.4984G>A MANE Select	NP_542411.2:p.Gly1662Ser
NM_080681.3:c.4726G>A	NP_542412.2:p.Gly1576Ser
NM_080679.3:c.4663G>A	NP_542410.2:p.Gly1555Ser