Canonical Allele Identifier: CA363644257

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33142329C>A (hg19) ; chr6:g.33174552C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174552C>A , CM000668.2:g.33174552C>A	GRCh38
NC_000006.11:g.33142329C>A , CM000668.1:g.33142329C>A	GRCh37
NC_000006.10:g.33250307C>A	NCBI36
NG_011589.1:g.22917G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361917.6:c.978G>T
ENST00000341947.7:c.2405G>T MANE Select	ENSP00000339915.2:p.Gly802Val
ENST00000341947.6:c.2405G>T	ENSP00000339915.2:p.Gly802Val
ENST00000361917.5:c.2084G>T	ENSP00000355123.1:p.Gly695Val
ENST00000374708.8:c.2147G>T	ENSP00000363840.4:p.Gly716Val
ENST00000477772.1:n.272+2457G>T
NM_080679.2:c.2084G>T	NP_542410.2:p.Gly695Val
NM_080680.2:c.2405G>T	NP_542411.2:p.Gly802Val
NM_080681.2:c.2147G>T	NP_542412.2:p.Gly716Val
XM_011514298.1:c.1559G>T	XP_011512600.1:p.Gly520Val
XM_011514299.1:c.1691G>T	XP_011512601.1:p.Gly564Val
XM_011514300.1:c.1511G>T	XP_011512602.1:p.Gly504Val
XM_011514301.1:c.1448G>T	XP_011512603.1:p.Gly483Val
XM_011514302.1:c.1292G>T	XP_011512604.1:p.Gly431Val
XM_011514299.2:c.1691G>T	XP_011512601.1:p.Gly564Val
XM_011514300.2:c.1511G>T	XP_011512602.1:p.Gly504Val
XM_011514302.2:c.1292G>T	XP_011512604.1:p.Gly431Val
XM_017010250.1:c.2405G>T	XP_016865739.1:p.Gly802Val
XM_017010251.2:c.1223G>T	XP_016865740.1:p.Gly408Val
NM_080680.3:c.2405G>T MANE Select	NP_542411.2:p.Gly802Val
NM_080681.3:c.2147G>T	NP_542412.2:p.Gly716Val
NM_080679.3:c.2084G>T	NP_542410.2:p.Gly695Val