Canonical Allele Identifier: CA363628003

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33137245T>A (hg19) ; chr6:g.33169468T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33169468T>A , CM000668.2:g.33169468T>A	GRCh38
NC_000006.11:g.33137245T>A , CM000668.1:g.33137245T>A	GRCh37
NC_000006.10:g.33245223T>A	NCBI36
NG_011589.1:g.28001A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3713A>T MANE Select	ENSP00000339915.2:p.Glu1238Val
ENST00000341947.6:c.3713A>T	ENSP00000339915.2:p.Glu1238Val
ENST00000361917.5:c.3392A>T	ENSP00000355123.1:p.Glu1131Val
ENST00000374708.8:c.3455A>T	ENSP00000363840.4:p.Glu1152Val
ENST00000477772.1:n.273-3652A>T
NM_080679.2:c.3392A>T	NP_542410.2:p.Glu1131Val
NM_080680.2:c.3713A>T	NP_542411.2:p.Glu1238Val
NM_080681.2:c.3455A>T	NP_542412.2:p.Glu1152Val
XM_011514298.1:c.2867A>T	XP_011512600.1:p.Glu956Val
XM_011514299.1:c.2999A>T	XP_011512601.1:p.Glu1000Val
XM_011514300.1:c.2819A>T	XP_011512602.1:p.Glu940Val
XM_011514301.1:c.2756A>T	XP_011512603.1:p.Glu919Val
XM_011514302.1:c.2600A>T	XP_011512604.1:p.Glu867Val
XM_011514299.2:c.2999A>T	XP_011512601.1:p.Glu1000Val
XM_011514300.2:c.2819A>T	XP_011512602.1:p.Glu940Val
XM_011514302.2:c.2600A>T	XP_011512604.1:p.Glu867Val
XM_017010250.1:c.3713A>T	XP_016865739.1:p.Glu1238Val
XM_017010251.2:c.2531A>T	XP_016865740.1:p.Glu844Val
NM_080680.3:c.3713A>T MANE Select	NP_542411.2:p.Glu1238Val
NM_080681.3:c.3455A>T	NP_542412.2:p.Glu1152Val
NM_080679.3:c.3392A>T	NP_542410.2:p.Glu1131Val