Canonical Allele Identifier: CA363628019

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33137248C>A (hg19) ; chr6:g.33169471C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169471C>A , CM000668.2:g.33169471C>A	GRCh38
NC_000006.11:g.33137248C>A , CM000668.1:g.33137248C>A	GRCh37
NC_000006.10:g.33245226C>A	NCBI36
NG_011589.1:g.27998G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3710G>T MANE Select	ENSP00000339915.2:p.Gly1237Val
ENST00000341947.6:c.3710G>T	ENSP00000339915.2:p.Gly1237Val
ENST00000361917.5:c.3389G>T	ENSP00000355123.1:p.Gly1130Val
ENST00000374708.8:c.3452G>T	ENSP00000363840.4:p.Gly1151Val
ENST00000477772.1:n.273-3655G>T
NM_080679.2:c.3389G>T	NP_542410.2:p.Gly1130Val
NM_080680.2:c.3710G>T	NP_542411.2:p.Gly1237Val
NM_080681.2:c.3452G>T	NP_542412.2:p.Gly1151Val
XM_011514298.1:c.2864G>T	XP_011512600.1:p.Gly955Val
XM_011514299.1:c.2996G>T	XP_011512601.1:p.Gly999Val
XM_011514300.1:c.2816G>T	XP_011512602.1:p.Gly939Val
XM_011514301.1:c.2753G>T	XP_011512603.1:p.Gly918Val
XM_011514302.1:c.2597G>T	XP_011512604.1:p.Gly866Val
XM_011514299.2:c.2996G>T	XP_011512601.1:p.Gly999Val
XM_011514300.2:c.2816G>T	XP_011512602.1:p.Gly939Val
XM_011514302.2:c.2597G>T	XP_011512604.1:p.Gly866Val
XM_017010250.1:c.3710G>T	XP_016865739.1:p.Gly1237Val
XM_017010251.2:c.2528G>T	XP_016865740.1:p.Gly843Val
NM_080680.3:c.3710G>T MANE Select	NP_542411.2:p.Gly1237Val
NM_080681.3:c.3452G>T	NP_542412.2:p.Gly1151Val
NM_080679.3:c.3389G>T	NP_542410.2:p.Gly1130Val