Canonical Allele Identifier: CA449867224

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132632C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164855C>G , CM000668.2:g.33164855C>G	GRCh38
NC_000006.11:g.33132632C>G , CM000668.1:g.33132632C>G	GRCh37
NC_000006.10:g.33240610C>G	NCBI36
NG_011589.1:g.32614G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.666G>C
ENST00000341947.7:c.4860G>C MANE Select	ENSP00000339915.2:p.Thr1620=
ENST00000341947.6:c.4860G>C	ENSP00000339915.2:p.Thr1620=
ENST00000361917.5:c.4539G>C	ENSP00000355123.1:p.Thr1513=
ENST00000374708.8:c.4602G>C	ENSP00000363840.4:p.Thr1534=
ENST00000477772.1:n.650G>C
NM_080679.2:c.4539G>C	NP_542410.2:p.Thr1513=
NM_080680.2:c.4860G>C	NP_542411.2:p.Thr1620=
NM_080681.2:c.4602G>C	NP_542412.2:p.Thr1534=
XM_011514298.1:c.4014G>C	XP_011512600.1:p.Thr1338=
XM_011514299.1:c.4146G>C	XP_011512601.1:p.Thr1382=
XM_011514300.1:c.3966G>C	XP_011512602.1:p.Thr1322=
XM_011514301.1:c.3903G>C	XP_011512603.1:p.Thr1301=
XM_011514302.1:c.3747G>C	XP_011512604.1:p.Thr1249=
XM_011514299.2:c.4146G>C	XP_011512601.1:p.Thr1382=
XM_011514300.2:c.3966G>C	XP_011512602.1:p.Thr1322=
XM_011514302.2:c.3747G>C	XP_011512604.1:p.Thr1249=
XM_017010250.1:c.4860G>C	XP_016865739.1:p.Thr1620=
XM_017010251.2:c.3678G>C	XP_016865740.1:p.Thr1226=
NM_080680.3:c.4860G>C MANE Select	NP_542411.2:p.Thr1620=
NM_080681.3:c.4602G>C	NP_542412.2:p.Thr1534=
NM_080679.3:c.4539G>C	NP_542410.2:p.Thr1513=