Canonical Allele Identifier: CA363617385

Gene: COL11A2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164857T>G , CM000668.2:g.33164857T>G	GRCh38
NC_000006.11:g.33132634T>G , CM000668.1:g.33132634T>G	GRCh37
NC_000006.10:g.33240612T>G	NCBI36
NG_011589.1:g.32612A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.664A>C
ENST00000341947.7:c.4858A>C MANE Select	ENSP00000339915.2:p.Thr1620Pro
ENST00000341947.6:c.4858A>C	ENSP00000339915.2:p.Thr1620Pro
ENST00000361917.5:c.4537A>C	ENSP00000355123.1:p.Thr1513Pro
ENST00000374708.8:c.4600A>C	ENSP00000363840.4:p.Thr1534Pro
ENST00000477772.1:n.648A>C
NM_080679.2:c.4537A>C	NP_542410.2:p.Thr1513Pro
NM_080680.2:c.4858A>C	NP_542411.2:p.Thr1620Pro
NM_080681.2:c.4600A>C	NP_542412.2:p.Thr1534Pro
XM_011514298.1:c.4012A>C	XP_011512600.1:p.Thr1338Pro
XM_011514299.1:c.4144A>C	XP_011512601.1:p.Thr1382Pro
XM_011514300.1:c.3964A>C	XP_011512602.1:p.Thr1322Pro
XM_011514301.1:c.3901A>C	XP_011512603.1:p.Thr1301Pro
XM_011514302.1:c.3745A>C	XP_011512604.1:p.Thr1249Pro
XM_011514299.2:c.4144A>C	XP_011512601.1:p.Thr1382Pro
XM_011514300.2:c.3964A>C	XP_011512602.1:p.Thr1322Pro
XM_011514302.2:c.3745A>C	XP_011512604.1:p.Thr1249Pro
XM_017010250.1:c.4858A>C	XP_016865739.1:p.Thr1620Pro
XM_017010251.2:c.3676A>C	XP_016865740.1:p.Thr1226Pro
NM_080680.3:c.4858A>C MANE Select	NP_542411.2:p.Thr1620Pro
NM_080681.3:c.4600A>C	NP_542412.2:p.Thr1534Pro
NM_080679.3:c.4537A>C	NP_542410.2:p.Thr1513Pro