Canonical Allele Identifier: CA3750574

Gene: COL11A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171294T>G , CM000668.2:g.33171294T>G	GRCh38
NC_000006.11:g.33139071T>G , CM000668.1:g.33139071T>G	GRCh37
NC_000006.10:g.33247049T>G	NCBI36
NG_011589.1:g.26175A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3289A>C MANE Select	ENSP00000339915.2:p.Thr1097Pro
ENST00000341947.6:c.3289A>C	ENSP00000339915.2:p.Thr1097Pro
ENST00000361917.5:c.2968A>C	ENSP00000355123.1:p.Thr990Pro
ENST00000374708.8:c.3031A>C	ENSP00000363840.4:p.Thr1011Pro
ENST00000477772.1:n.273-5478A>C
NM_080679.2:c.2968A>C	NP_542410.2:p.Thr990Pro
NM_080680.2:c.3289A>C	NP_542411.2:p.Thr1097Pro
NM_080681.2:c.3031A>C	NP_542412.2:p.Thr1011Pro
XM_011514298.1:c.2443A>C	XP_011512600.1:p.Thr815Pro
XM_011514299.1:c.2575A>C	XP_011512601.1:p.Thr859Pro
XM_011514300.1:c.2395A>C	XP_011512602.1:p.Thr799Pro
XM_011514301.1:c.2332A>C	XP_011512603.1:p.Thr778Pro
XM_011514302.1:c.2176A>C	XP_011512604.1:p.Thr726Pro
XM_011514299.2:c.2575A>C	XP_011512601.1:p.Thr859Pro
XM_011514300.2:c.2395A>C	XP_011512602.1:p.Thr799Pro
XM_011514302.2:c.2176A>C	XP_011512604.1:p.Thr726Pro
XM_017010250.1:c.3289A>C	XP_016865739.1:p.Thr1097Pro
XM_017010251.2:c.2107A>C	XP_016865740.1:p.Thr703Pro
NM_080680.3:c.3289A>C MANE Select	NP_542411.2:p.Thr1097Pro
NM_080681.3:c.3031A>C	NP_542412.2:p.Thr1011Pro
NM_080679.3:c.2968A>C	NP_542410.2:p.Thr990Pro