Canonical Allele Identifier: CA3749946

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 498728
• ClinVar RCV Id: RCV000595508 ; RCV001510204 ; RCV002279375 ; RCV003980082
• dbSNP Id: rs372110441
• ExAC: 6:33132164 G / A
• gnomAD v2: 6-33132164-G-A
• gnomAD v3: 6-33164387-G-A
• gnomAD v4: 6-33164387-G-A
• MyVariant Identifiers: chr6:g.33132164G>A (hg19) ; chr6:g.33164387G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164387G>A , CM000668.2:g.33164387G>A	GRCh38
NC_000006.11:g.33132164G>A , CM000668.1:g.33132164G>A	GRCh37
NC_000006.10:g.33240142G>A	NCBI36
NG_011589.1:g.33082C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.756C>T
ENST00000341947.7:c.4950C>T MANE Select	ENSP00000339915.2:p.Asp1650=
ENST00000341947.6:c.4950C>T	ENSP00000339915.2:p.Asp1650=
ENST00000361917.5:c.4629C>T	ENSP00000355123.1:p.Asp1543=
ENST00000374708.8:c.4692C>T	ENSP00000363840.4:p.Asp1564=
ENST00000477772.1:n.740C>T
NM_080679.2:c.4629C>T	NP_542410.2:p.Asp1543=
NM_080680.2:c.4950C>T	NP_542411.2:p.Asp1650=
NM_080681.2:c.4692C>T	NP_542412.2:p.Asp1564=
XM_011514298.1:c.4104C>T	XP_011512600.1:p.Asp1368=
XM_011514299.1:c.4236C>T	XP_011512601.1:p.Asp1412=
XM_011514300.1:c.4056C>T	XP_011512602.1:p.Asp1352=
XM_011514301.1:c.3993C>T	XP_011512603.1:p.Asp1331=
XM_011514302.1:c.3837C>T	XP_011512604.1:p.Asp1279=
XM_011514299.2:c.4236C>T	XP_011512601.1:p.Asp1412=
XM_011514300.2:c.4056C>T	XP_011512602.1:p.Asp1352=
XM_011514302.2:c.3837C>T	XP_011512604.1:p.Asp1279=
XM_017010250.1:c.4950C>T	XP_016865739.1:p.Asp1650=
XM_017010251.2:c.3768C>T	XP_016865740.1:p.Asp1256=
NM_080680.3:c.4950C>T MANE Select	NP_542411.2:p.Asp1650=
NM_080681.3:c.4692C>T	NP_542412.2:p.Asp1564=
NM_080679.3:c.4629C>T	NP_542410.2:p.Asp1543=