Canonical Allele Identifier: CA449866954

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164345-C-T
• MyVariant Identifiers: chr6:g.33132122C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164345C>T , CM000668.2:g.33164345C>T	GRCh38
NC_000006.11:g.33132122C>T , CM000668.1:g.33132122C>T	GRCh37
NC_000006.10:g.33240100C>T	NCBI36
NG_011589.1:g.33124G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.798G>A
ENST00000341947.7:c.4992G>A MANE Select	ENSP00000339915.2:p.Leu1664=
ENST00000341947.6:c.4992G>A	ENSP00000339915.2:p.Leu1664=
ENST00000361917.5:c.4671G>A	ENSP00000355123.1:p.Leu1557=
ENST00000374708.8:c.4734G>A	ENSP00000363840.4:p.Leu1578=
ENST00000477772.1:n.782G>A
NM_080679.2:c.4671G>A	NP_542410.2:p.Leu1557=
NM_080680.2:c.4992G>A	NP_542411.2:p.Leu1664=
NM_080681.2:c.4734G>A	NP_542412.2:p.Leu1578=
XM_011514298.1:c.4146G>A	XP_011512600.1:p.Leu1382=
XM_011514299.1:c.4278G>A	XP_011512601.1:p.Leu1426=
XM_011514300.1:c.4098G>A	XP_011512602.1:p.Leu1366=
XM_011514301.1:c.4035G>A	XP_011512603.1:p.Leu1345=
XM_011514302.1:c.3879G>A	XP_011512604.1:p.Leu1293=
XM_011514299.2:c.4278G>A	XP_011512601.1:p.Leu1426=
XM_011514300.2:c.4098G>A	XP_011512602.1:p.Leu1366=
XM_011514302.2:c.3879G>A	XP_011512604.1:p.Leu1293=
XM_017010250.1:c.4992G>A	XP_016865739.1:p.Leu1664=
XM_017010251.2:c.3810G>A	XP_016865740.1:p.Leu1270=
NM_080680.3:c.4992G>A MANE Select	NP_542411.2:p.Leu1664=
NM_080681.3:c.4734G>A	NP_542412.2:p.Leu1578=
NM_080679.3:c.4671G>A	NP_542410.2:p.Leu1557=