Canonical Allele Identifier: CA363616622

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164460-T-C
• MyVariant Identifiers: chr6:g.33132237T>C (hg19) ; chr6:g.33164460T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164460T>C , CM000668.2:g.33164460T>C	GRCh38
NC_000006.11:g.33132237T>C , CM000668.1:g.33132237T>C	GRCh37
NC_000006.10:g.33240215T>C	NCBI36
NG_011589.1:g.33009A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.683A>G
ENST00000341947.7:c.4877A>G MANE Select	ENSP00000339915.2:p.Asp1626Gly
ENST00000341947.6:c.4877A>G	ENSP00000339915.2:p.Asp1626Gly
ENST00000361917.5:c.4556A>G	ENSP00000355123.1:p.Asp1519Gly
ENST00000374708.8:c.4619A>G	ENSP00000363840.4:p.Asp1540Gly
ENST00000477772.1:n.667A>G
NM_080679.2:c.4556A>G	NP_542410.2:p.Asp1519Gly
NM_080680.2:c.4877A>G	NP_542411.2:p.Asp1626Gly
NM_080681.2:c.4619A>G	NP_542412.2:p.Asp1540Gly
XM_011514298.1:c.4031A>G	XP_011512600.1:p.Asp1344Gly
XM_011514299.1:c.4163A>G	XP_011512601.1:p.Asp1388Gly
XM_011514300.1:c.3983A>G	XP_011512602.1:p.Asp1328Gly
XM_011514301.1:c.3920A>G	XP_011512603.1:p.Asp1307Gly
XM_011514302.1:c.3764A>G	XP_011512604.1:p.Asp1255Gly
XM_011514299.2:c.4163A>G	XP_011512601.1:p.Asp1388Gly
XM_011514300.2:c.3983A>G	XP_011512602.1:p.Asp1328Gly
XM_011514302.2:c.3764A>G	XP_011512604.1:p.Asp1255Gly
XM_017010250.1:c.4877A>G	XP_016865739.1:p.Asp1626Gly
XM_017010251.2:c.3695A>G	XP_016865740.1:p.Asp1232Gly
NM_080680.3:c.4877A>G MANE Select	NP_542411.2:p.Asp1626Gly
NM_080681.3:c.4619A>G	NP_542412.2:p.Asp1540Gly
NM_080679.3:c.4556A>G	NP_542410.2:p.Asp1519Gly