Canonical Allele Identifier: CA449881445

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 1507706
• ClinVar RCV Id: RCV002013594
• dbSNP Id: rs1227013128
• gnomAD v3: 6-33174551-G-C
• gnomAD v4: 6-33174551-G-C
• MyVariant Identifiers: chr6:g.33142328G>C (hg19) ; chr6:g.33174551G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174551G>C , CM000668.2:g.33174551G>C	GRCh38
NC_000006.11:g.33142328G>C , CM000668.1:g.33142328G>C	GRCh37
NC_000006.10:g.33250306G>C	NCBI36
NG_011589.1:g.22918C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.979C>G
ENST00000341947.7:c.2406C>G MANE Select	ENSP00000339915.2:p.Gly802=
ENST00000341947.6:c.2406C>G	ENSP00000339915.2:p.Gly802=
ENST00000361917.5:c.2085C>G	ENSP00000355123.1:p.Gly695=
ENST00000374708.8:c.2148C>G	ENSP00000363840.4:p.Gly716=
ENST00000477772.1:n.272+2458C>G
NM_080679.2:c.2085C>G	NP_542410.2:p.Gly695=
NM_080680.2:c.2406C>G	NP_542411.2:p.Gly802=
NM_080681.2:c.2148C>G	NP_542412.2:p.Gly716=
XM_011514298.1:c.1560C>G	XP_011512600.1:p.Gly520=
XM_011514299.1:c.1692C>G	XP_011512601.1:p.Gly564=
XM_011514300.1:c.1512C>G	XP_011512602.1:p.Gly504=
XM_011514301.1:c.1449C>G	XP_011512603.1:p.Gly483=
XM_011514302.1:c.1293C>G	XP_011512604.1:p.Gly431=
XM_011514299.2:c.1692C>G	XP_011512601.1:p.Gly564=
XM_011514300.2:c.1512C>G	XP_011512602.1:p.Gly504=
XM_011514302.2:c.1293C>G	XP_011512604.1:p.Gly431=
XM_017010250.1:c.2406C>G	XP_016865739.1:p.Gly802=
XM_017010251.2:c.1224C>G	XP_016865740.1:p.Gly408=
NM_080680.3:c.2406C>G MANE Select	NP_542411.2:p.Gly802=
NM_080681.3:c.2148C>G	NP_542412.2:p.Gly716=
NM_080679.3:c.2085C>G	NP_542410.2:p.Gly695=