Canonical Allele Identifier: CA3751090

Gene: COL11A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33177216C>G , CM000668.2:g.33177216C>G	GRCh38
NC_000006.11:g.33144993C>G , CM000668.1:g.33144993C>G	GRCh37
NC_000006.10:g.33252971C>G	NCBI36
NG_011589.1:g.20253G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.554G>C
ENST00000341947.7:c.1981G>C MANE Select	ENSP00000339915.2:p.Gly661Arg
ENST00000341947.6:c.1981G>C	ENSP00000339915.2:p.Gly661Arg
ENST00000361917.5:c.1660G>C	ENSP00000355123.1:p.Gly554Arg
ENST00000374708.8:c.1723G>C	ENSP00000363840.4:p.Gly575Arg
ENST00000477772.1:n.200G>C
NM_080679.2:c.1660G>C	NP_542410.2:p.Gly554Arg
NM_080680.2:c.1981G>C	NP_542411.2:p.Gly661Arg
NM_080681.2:c.1723G>C	NP_542412.2:p.Gly575Arg
XM_011514298.1:c.1135G>C	XP_011512600.1:p.Gly379Arg
XM_011514299.1:c.1267G>C	XP_011512601.1:p.Gly423Arg
XM_011514300.1:c.1087G>C	XP_011512602.1:p.Gly363Arg
XM_011514301.1:c.1024G>C	XP_011512603.1:p.Gly342Arg
XM_011514302.1:c.868G>C	XP_011512604.1:p.Gly290Arg
XM_011514299.2:c.1267G>C	XP_011512601.1:p.Gly423Arg
XM_011514300.2:c.1087G>C	XP_011512602.1:p.Gly363Arg
XM_011514302.2:c.868G>C	XP_011512604.1:p.Gly290Arg
XM_017010250.1:c.1981G>C	XP_016865739.1:p.Gly661Arg
XM_017010251.2:c.799G>C	XP_016865740.1:p.Gly267Arg
NM_080680.3:c.1981G>C MANE Select	NP_542411.2:p.Gly661Arg
NM_080681.3:c.1723G>C	NP_542412.2:p.Gly575Arg
NM_080679.3:c.1660G>C	NP_542410.2:p.Gly554Arg