Canonical Allele Identifier: CA449867070

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2877404
• ClinVar RCV Id: RCV003712891
• gnomAD v4: 6-33164444-T-C
• MyVariant Identifiers: chr6:g.33132221T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164444T>C , CM000668.2:g.33164444T>C	GRCh38
NC_000006.11:g.33132221T>C , CM000668.1:g.33132221T>C	GRCh37
NC_000006.10:g.33240199T>C	NCBI36
NG_011589.1:g.33025A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.699A>G
ENST00000341947.7:c.4893A>G MANE Select	ENSP00000339915.2:p.Pro1631=
ENST00000341947.6:c.4893A>G	ENSP00000339915.2:p.Pro1631=
ENST00000361917.5:c.4572A>G	ENSP00000355123.1:p.Pro1524=
ENST00000374708.8:c.4635A>G	ENSP00000363840.4:p.Pro1545=
ENST00000477772.1:n.683A>G
NM_080679.2:c.4572A>G	NP_542410.2:p.Pro1524=
NM_080680.2:c.4893A>G	NP_542411.2:p.Pro1631=
NM_080681.2:c.4635A>G	NP_542412.2:p.Pro1545=
XM_011514298.1:c.4047A>G	XP_011512600.1:p.Pro1349=
XM_011514299.1:c.4179A>G	XP_011512601.1:p.Pro1393=
XM_011514300.1:c.3999A>G	XP_011512602.1:p.Pro1333=
XM_011514301.1:c.3936A>G	XP_011512603.1:p.Pro1312=
XM_011514302.1:c.3780A>G	XP_011512604.1:p.Pro1260=
XM_011514299.2:c.4179A>G	XP_011512601.1:p.Pro1393=
XM_011514300.2:c.3999A>G	XP_011512602.1:p.Pro1333=
XM_011514302.2:c.3780A>G	XP_011512604.1:p.Pro1260=
XM_017010250.1:c.4893A>G	XP_016865739.1:p.Pro1631=
XM_017010251.2:c.3711A>G	XP_016865740.1:p.Pro1237=
NM_080680.3:c.4893A>G MANE Select	NP_542411.2:p.Pro1631=
NM_080681.3:c.4635A>G	NP_542412.2:p.Pro1545=
NM_080679.3:c.4572A>G	NP_542410.2:p.Pro1524=