Canonical Allele Identifier: CA449881443

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33174551-G-A
• MyVariant Identifiers: chr6:g.33142328G>A (hg19)

Genomic Alleles

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

Transcript Alleles

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