Canonical Allele Identifier: CA363627941

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33137239C>A (hg19) ; chr6:g.33169462C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169462C>A , CM000668.2:g.33169462C>A	GRCh38
NC_000006.11:g.33137239C>A , CM000668.1:g.33137239C>A	GRCh37
NC_000006.10:g.33245217C>A	NCBI36
NG_011589.1:g.28007G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3719G>T MANE Select	ENSP00000339915.2:p.Gly1240Val
ENST00000341947.6:c.3719G>T	ENSP00000339915.2:p.Gly1240Val
ENST00000361917.5:c.3398G>T	ENSP00000355123.1:p.Gly1133Val
ENST00000374708.8:c.3461G>T	ENSP00000363840.4:p.Gly1154Val
ENST00000477772.1:n.273-3646G>T
NM_080679.2:c.3398G>T	NP_542410.2:p.Gly1133Val
NM_080680.2:c.3719G>T	NP_542411.2:p.Gly1240Val
NM_080681.2:c.3461G>T	NP_542412.2:p.Gly1154Val
XM_011514298.1:c.2873G>T	XP_011512600.1:p.Gly958Val
XM_011514299.1:c.3005G>T	XP_011512601.1:p.Gly1002Val
XM_011514300.1:c.2825G>T	XP_011512602.1:p.Gly942Val
XM_011514301.1:c.2762G>T	XP_011512603.1:p.Gly921Val
XM_011514302.1:c.2606G>T	XP_011512604.1:p.Gly869Val
XM_011514299.2:c.3005G>T	XP_011512601.1:p.Gly1002Val
XM_011514300.2:c.2825G>T	XP_011512602.1:p.Gly942Val
XM_011514302.2:c.2606G>T	XP_011512604.1:p.Gly869Val
XM_017010250.1:c.3719G>T	XP_016865739.1:p.Gly1240Val
XM_017010251.2:c.2537G>T	XP_016865740.1:p.Gly846Val
NM_080680.3:c.3719G>T MANE Select	NP_542411.2:p.Gly1240Val
NM_080681.3:c.3461G>T	NP_542412.2:p.Gly1154Val
NM_080679.3:c.3398G>T	NP_542410.2:p.Gly1133Val